Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648899A>T , CM000665.2:g.81648899A>T | GRCh38 |
| NC_000003.11:g.81698050A>T , CM000665.1:g.81698050A>T | GRCh37 |
| NC_000003.10:g.81780740A>T | NCBI36 |
| NG_011810.1:g.117902T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.648T>A MANE Select | NP_000149.4:p.Tyr216Ter |
| ENST00000429644.7:c.648T>A MANE Select | ENSP00000410833.2:p.Tyr216Ter |
| NM_000158.3:c.648T>A | NP_000149.3:p.Tyr216Ter |
| ENST00000429644.6:c.648T>A | ENSP00000410833.2:p.Tyr216Ter |
| ENST00000489715.1:c.525T>A | ENSP00000419638.1:p.Tyr175Ter |
| ENST00000498468.1:n.176T>A |