Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785844G= , CM000681.2:g.18785844G= | GRCh38 |
| NC_000019.9:g.18896654G= , CM000681.1:g.18896654G= | GRCh37 |
| NC_000019.8:g.18757654G= | NCBI36 |
| NG_007070.1:g.10461C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1497C= MANE Select | ENSP00000222271.2:p.Gly499= | |
| ENST00000222271.6:c.1497C= | ENSP00000222271.2:p.Gly499= | |
| ENST00000425807.1:c.1338C= | ENSP00000403792.1:p.Gly446= | |
| ENST00000542601.6:c.1398C= | ENSP00000439156.2:p.Gly466= | |
| NM_000095.2:c.1497C= | NP_000086.2:p.Gly499= | |
| NM_000095.3:c.1497C= MANE Select | NP_000086.2:p.Gly499= |