Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785749A>C , CM000681.2:g.18785749A>C | GRCh38 |
| NC_000019.9:g.18896559A>C , CM000681.1:g.18896559A>C | GRCh37 |
| NC_000019.8:g.18757559A>C | NCBI36 |
| NG_007070.1:g.10556T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1592T>G MANE Select | ENSP00000222271.2:p.Phe531Cys | |
| ENST00000222271.6:c.1592T>G | ENSP00000222271.2:p.Phe531Cys | |
| ENST00000425807.1:c.1433T>G | ENSP00000403792.1:p.Phe478Cys | |
| ENST00000542601.6:c.1493T>G | ENSP00000439156.2:p.Phe498Cys | |
| NM_000095.2:c.1592T>G | NP_000086.2:p.Phe531Cys | |
| NM_000095.3:c.1592T>G MANE Select | NP_000086.2:p.Phe531Cys |