Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81649871C>T , CM000665.2:g.81649871C>T | GRCh38 |
| NC_000003.11:g.81699022C>T , CM000665.1:g.81699022C>T | GRCh37 |
| NC_000003.10:g.81781712C>T | NCBI36 |
| NG_011810.1:g.116930G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.480G>A MANE Select | NP_000149.4:p.Trp160Ter |
| ENST00000429644.7:c.480G>A MANE Select | ENSP00000410833.2:p.Trp160Ter |
| NM_000158.3:c.480G>A | NP_000149.3:p.Trp160Ter |
| ENST00000429644.6:c.480G>A | ENSP00000410833.2:p.Trp160Ter |
| ENST00000486920.1:n.476G>A | |
| ENST00000489715.1:c.357G>A | ENSP00000419638.1:p.Trp119Ter |
| ENST00000498468.1:n.8G>A |