Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8079937G>T , CM000679.2:g.8079937G>T | GRCh38 |
| NC_000017.10:g.7983255G>T , CM000679.1:g.7983255G>T | GRCh37 |
| NC_000017.9:g.7923980G>T | NCBI36 |
| NG_007099.1:g.12767C>A | |
| NG_007099.2:g.12780C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.759C>A MANE Select | NP_001130.1:p.Tyr253Ter |
| ENST00000647874.1:c.759C>A MANE Select | ENSP00000497784.1:p.Tyr253Ter |
| NM_001139.2:c.759C>A | NP_001130.1:p.Tyr253Ter |
| ENST00000319144.4:c.759C>A | ENSP00000315167.4:p.Tyr253Ter |
| ENST00000583276.5:n.143C>A | |
| ENST00000584116.1:n.159C>A | |
| XR_001752778.1:n.166G>T |