Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571594C>A , CM000663.2:g.154571594C>A | GRCh38 |
| NC_000001.10:g.154544070C>A , CM000663.1:g.154544070C>A | GRCh37 |
| NC_000001.9:g.152810694C>A | NCBI36 |
| NG_008027.1:g.8814C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.771C>A MANE Select | ENSP00000357461.3:p.Tyr257Ter | |
| ENST00000636034.1:c.771C>A | ENSP00000489703.1:p.Tyr257Ter | |
| ENST00000637900.1:c.777C>A | ENSP00000490474.1:p.Tyr259Ter | |
| ENST00000368476.3:c.771C>A | ENSP00000357461.3:p.Tyr257Ter | |
| NM_000748.2:c.771C>A | NP_000739.1:p.Tyr257Ter | |
| XM_017000180.2:c.261C>A | XP_016855669.1:p.Tyr87Ter | |
| XR_001736952.2:n.1023C>A | ||
| NM_000748.3:c.771C>A MANE Select | NP_000739.1:p.Tyr257Ter |