Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021950A>C , CM000663.2:g.94021950A>C | GRCh38 |
| NC_000001.10:g.94487506A>C , CM000663.1:g.94487506A>C | GRCh37 |
| NC_000001.9:g.94260094A>C | NCBI36 |
| NG_009073.1:g.104200T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4669T>G MANE Select | ENSP00000359245.3:p.Tyr1557Asp | |
| ENST00000370225.3:c.4669T>G | ENSP00000359245.3:p.Tyr1557Asp | |
| ENST00000460514.1:n.163T>G | ||
| ENST00000536513.5:c.1045T>G | ENSP00000439707.2:p.Tyr349Asp | |
| NM_000350.2:c.4669T>G | NP_000341.2:p.Tyr1557Asp | |
| NM_000350.3:c.4669T>G MANE Select | NP_000341.2:p.Tyr1557Asp |