Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783129G= , CM000681.2:g.18783129G= | GRCh38 |
| NC_000019.9:g.18893939G= , CM000681.1:g.18893939G= | GRCh37 |
| NC_000019.8:g.18754939G= | NCBI36 |
| NG_007070.1:g.13176C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.2152C= MANE Select | NP_000086.2:p.Arg718= |
| ENST00000222271.7:c.2152C= MANE Select | ENSP00000222271.2:p.Arg718= |
| NM_000095.2:c.2152C= | NP_000086.2:p.Arg718= |
| ENST00000222271.6:c.2152C= | ENSP00000222271.2:p.Arg718= |
| ENST00000425807.1:c.1993C= | ENSP00000403792.1:p.Arg665= |
| ENST00000542601.6:c.2053C= | ENSP00000439156.2:p.Arg685= |