Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785058G= , CM000681.2:g.18785058G= | GRCh38 |
| NC_000019.9:g.18895868G= , CM000681.1:g.18895868G= | GRCh37 |
| NC_000019.8:g.18756868G= | NCBI36 |
| NG_007070.1:g.11247C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1752C= MANE Select | ENSP00000222271.2:p.Gly584= | |
| ENST00000222271.6:c.1752C= | ENSP00000222271.2:p.Gly584= | |
| ENST00000425807.1:c.1593C= | ENSP00000403792.1:p.Gly531= | |
| ENST00000542601.6:c.1653C= | ENSP00000439156.2:p.Gly551= | |
| NM_000095.2:c.1752C= | NP_000086.2:p.Gly584= | |
| NM_000095.3:c.1752C= MANE Select | NP_000086.2:p.Gly584= |