Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328381A>C , CM000664.2:g.29328381A>C | GRCh38 |
| NC_000002.11:g.29551247A>C , CM000664.1:g.29551247A>C | GRCh37 |
| NC_000002.10:g.29404751A>C | NCBI36 |
| NG_009445.1:g.598186T>G , LRG_488:g.598186T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1383T>G MANE Select | ENSP00000373700.3:p.Cys461Trp | |
| ENST00000389048.7:c.1383T>G | ENSP00000373700.3:p.Cys461Trp | |
| ENST00000618119.4:c.252T>G | ENSP00000482733.1:p.Cys84Trp | |
| NM_004304.4:c.1383T>G | NP_004295.2:p.Cys461Trp | |
| XR_939920.1:n.693-4A>C | ||
| XR_939921.1:n.680+5853A>C | ||
| XR_001738688.2:n.2313T>G | ||
| XR_939920.2:n.583-4A>C | ||
| XR_939921.2:n.576+5853A>C | ||
| NM_004304.5:c.1383T>G MANE Select | NP_004295.2:p.Cys461Trp |