Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636026T>G , CM000669.2:g.21636026T>G | GRCh38 |
| NC_000007.13:g.21675644T>G , CM000669.1:g.21675644T>G | GRCh37 |
| NC_000007.12:g.21642169T>G | NCBI36 |
| NG_012886.2:g.97812T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4656T>G MANE Select | ENSP00000475939.1:p.Cys1552Trp | |
| ENST00000328843.10:c.4671T>G | ENSP00000330671.7:p.Cys1557Trp | |
| ENST00000409508.7:c.4656T>G | ENSP00000475939.1:p.Cys1552Trp | |
| ENST00000465593.1:n.682T>G | ||
| ENST00000620169.4:c.4671T>G | ENSP00000481693.1:p.Cys1557Trp | |
| NM_001277115.1:c.4656T>G | NP_001264044.1:p.Cys1552Trp | |
| NM_001277115.2:c.4656T>G MANE Select | NP_001264044.1:p.Cys1552Trp |