Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110152375G>T , CM000675.2:g.110152375G>T | GRCh38 |
| NC_000013.10:g.110804722G>T , CM000675.1:g.110804722G>T | GRCh37 |
| NC_000013.9:g.109602723G>T | NCBI36 |
| NG_011544.2:g.159775C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4887C>A MANE Select | NP_001836.3:p.Tyr1629Ter |
| ENST00000375820.10:c.4887C>A MANE Select | ENSP00000364979.4:p.Tyr1629Ter |
| NM_001845.5:c.4887C>A | NP_001836.3:p.Tyr1629Ter |
| ENST00000375820.8:c.4887C>A | ENSP00000364979.4:p.Tyr1629Ter |
| ENST00000649720.1:n.1055C>A | |
| ENST00000650424.1:c.1043C>A | |
| XM_011521048.1:c.4695C>A | XP_011519350.1:p.Tyr1565Ter |
| XM_011521048.2:c.4695C>A | XP_011519350.1:p.Tyr1565Ter |