Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23275723C= , CM000676.2:g.23275723C= | GRCh38 |
| NC_000014.8:g.23744932C= , CM000676.1:g.23744932C= | GRCh37 |
| NC_000014.7:g.22814772C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020834.3:c.1505G= MANE Select | NP_065885.2:p.Arg502= |
| ENST00000357460.7:c.1505G= MANE Select | ENSP00000350049.4:p.Arg502= |
| NM_020834.2:c.1505G= | NP_065885.2:p.Arg502= |
| ENST00000357460.6:c.1505G= | ENSP00000350049.4:p.Arg502= |
| ENST00000561013.2:c.1511G= | ENSP00000453979.1:p.Arg504= |
| ENST00000561013.3:c.1511G= | ENSP00000453979.1:p.Arg504= |
| ENST00000673724.1:c.1172G= | ENSP00000501153.1:p.Arg391= |