Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124947886G>T , CM000674.2:g.124947886G>T | GRCh38 |
| NC_000012.11:g.125432432G>T , CM000674.1:g.125432432G>T | GRCh37 |
| NC_000012.10:g.123998385G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3390C>A MANE Select | ENSP00000311135.2:p.Tyr1130Ter | |
| ENST00000544745.2:c.3057C>A | ||
| ENST00000308736.6:c.3390C>A | ENSP00000311135.2:p.Tyr1130Ter | |
| ENST00000507267.2:n.534C>A | ||
| ENST00000539298.1:n.3490C>A | ||
| ENST00000542400.5:n.2004C>A | ||
| ENST00000544745.1:c.*58C>A | ENSP00000439009.1:n.*58C>A | |
| NM_032656.3:c.3390C>A | NP_116045.2:p.Tyr1130Ter | |
| XR_001748819.1:n.3530C>A | ||
| XR_001748820.1:n.3483C>A | ||
| NM_032656.4:c.3390C>A MANE Select | NP_116045.2:p.Tyr1130Ter |