Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787594C= , CM000681.2:g.18787594C= | GRCh38 |
| NC_000019.9:g.18898403C= , CM000681.1:g.18898403C= | GRCh37 |
| NC_000019.8:g.18759403C= | NCBI36 |
| NG_007070.1:g.8712G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1032G= MANE Select | ENSP00000222271.2:p.Trp344= | |
| ENST00000222271.6:c.1032G= | ENSP00000222271.2:p.Trp344= | |
| ENST00000425807.1:c.873G= | ENSP00000403792.1:p.Trp291= | |
| ENST00000542601.6:c.933G= | ENSP00000439156.2:p.Trp311= | |
| NM_000095.2:c.1032G= | NP_000086.2:p.Trp344= | |
| NM_000095.3:c.1032G= MANE Select | NP_000086.2:p.Trp344= |