Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732931G>T , CM000663.2:g.115732931G>T | GRCh38 |
| NC_000001.10:g.116275552G>T , CM000663.1:g.116275552G>T | GRCh37 |
| NC_000001.9:g.116077075G>T | NCBI36 |
| NG_008802.1:g.40875C>A , LRG_404:g.40875C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.576C>A MANE Select | NP_001223.2:p.Tyr192Ter |
| ENST00000261448.6:c.576C>A MANE Select | ENSP00000261448.5:p.Tyr192Ter |
| NM_001232.3:c.576C>A , LRG_404t1:c.576C>A | NP_001223.2:p.Tyr192Ter |
| ENST00000261448.5:c.576C>A | ENSP00000261448.5:p.Tyr192Ter |
| ENST00000488931.2:c.300C>A | ENSP00000518226.1:p.Tyr100Ter |