Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784982A>C , CM000681.2:g.18784982A>C | GRCh38 |
| NC_000019.9:g.18895792A>C , CM000681.1:g.18895792A>C | GRCh37 |
| NC_000019.8:g.18756792A>C | NCBI36 |
| NG_007070.1:g.11323T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1828T>G MANE Select | ENSP00000222271.2:p.Tyr610Asp | |
| ENST00000222271.6:c.1828T>G | ENSP00000222271.2:p.Tyr610Asp | |
| ENST00000425807.1:c.1669T>G | ENSP00000403792.1:p.Tyr557Asp | |
| ENST00000542601.6:c.1729T>G | ENSP00000439156.2:p.Tyr577Asp | |
| NM_000095.2:c.1828T>G | NP_000086.2:p.Tyr610Asp | |
| NM_000095.3:c.1828T>G MANE Select | NP_000086.2:p.Tyr610Asp |