Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7581499C>A , CM000679.2:g.7581499C>A | GRCh38 |
| NC_000017.10:g.7484817C>A , CM000679.1:g.7484817C>A | GRCh37 |
| NC_000017.9:g.7425541C>A | NCBI36 |
| NG_009204.1:g.2853C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250092.11:c.1053C>A MANE Select | ENSP00000250092.6:p.Tyr351Ter | |
| ENST00000250092.10:c.1053C>A | ENSP00000250092.6:p.Tyr351Ter | |
| ENST00000380498.10:c.972C>A | ENSP00000369867.6:p.Tyr324Ter | |
| ENST00000584180.1:c.768C>A | ||
| NM_001040059.1:c.972C>A | NP_001035148.1:p.Tyr324Ter | |
| NM_001251.2:c.1053C>A | NP_001242.2:p.Tyr351Ter | |
| NM_001251.3:c.1053C>A MANE Select | NP_001242.2:p.Tyr351Ter | |
| NM_001040059.2:c.972C>A | NP_001035148.1:p.Tyr324Ter |