Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23275723C>T , CM000676.2:g.23275723C>T | GRCh38 |
| NC_000014.8:g.23744932C>T , CM000676.1:g.23744932C>T | GRCh37 |
| NC_000014.7:g.22814772C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020834.3:c.1505G>A MANE Select | NP_065885.2:p.Arg502Gln |
| ENST00000357460.7:c.1505G>A MANE Select | ENSP00000350049.4:p.Arg502Gln |
| NM_020834.2:c.1505G>A | NP_065885.2:p.Arg502Gln |
| ENST00000357460.6:c.1505G>A | ENSP00000350049.4:p.Arg502Gln |
| ENST00000561013.2:c.1511G>A | ENSP00000453979.1:p.Arg504Gln |
| ENST00000561013.3:c.1511G>A | ENSP00000453979.1:p.Arg504Gln |
| ENST00000673724.1:c.1172G>A | ENSP00000501153.1:p.Arg391Gln |