Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785690A>T , CM000681.2:g.18785690A>T | GRCh38 |
| NC_000019.9:g.18896500A>T , CM000681.1:g.18896500A>T | GRCh37 |
| NC_000019.8:g.18757500A>T | NCBI36 |
| NG_007070.1:g.10615T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1651T>A MANE Select | ENSP00000222271.2:p.Trp551Arg | |
| ENST00000222271.6:c.1651T>A | ENSP00000222271.2:p.Trp551Arg | |
| ENST00000425807.1:c.1492T>A | ENSP00000403792.1:p.Trp498Arg | |
| ENST00000542601.6:c.1552T>A | ENSP00000439156.2:p.Trp518Arg | |
| NM_000095.2:c.1651T>A | NP_000086.2:p.Trp551Arg | |
| NM_000095.3:c.1651T>A MANE Select | NP_000086.2:p.Trp551Arg |