Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786066C= , CM000681.2:g.18786066C= | GRCh38 |
| NC_000019.9:g.18896876C= , CM000681.1:g.18896876C= | GRCh37 |
| NC_000019.8:g.18757876C= | NCBI36 |
| NG_007070.1:g.10239G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1388G= MANE Select | ENSP00000222271.2:p.Gly463= | |
| ENST00000222271.6:c.1388G= | ENSP00000222271.2:p.Gly463= | |
| ENST00000425807.1:c.1229G= | ENSP00000403792.1:p.Gly410= | |
| ENST00000542601.6:c.1289G= | ENSP00000439156.2:p.Gly430= | |
| NM_000095.2:c.1388G= | NP_000086.2:p.Gly463= | |
| NM_000095.3:c.1388G= MANE Select | NP_000086.2:p.Gly463= |