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