I am a clinician, and have no particular expertise in genomics. I'm confused by much of what I see on dbSNP. Any help would be greatly appreciated! Thank you in advance.
I need some help understanding HGVS Names!
When I look under HGVS names for rs1801394 I see: NM_002454.2:c.66A>G, which l assume equals "A66G", but there are many other "names" there. What are these names? Are they all equivalent?
When I look under HGVS names for rs1801131 I do not see anything resembling "A1298C". Does this mean I have the wrong rs# for this SNP?
According to SNPedia, it's the correct rs#: "rs1801131 is a SNP in the MTHFR gene, representing an A>C mutation at mRNA position 1298".