Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46406314T>G , CM000663.2:g.46406314T>G | GRCh38 |
| NC_000001.10:g.46871986T>G , CM000663.1:g.46871986T>G | GRCh37 |
| NC_000001.9:g.46644573T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.897T>G MANE Select | ENSP00000243167.8:p.Cys299Trp | |
| ENST00000243167.8:c.897T>G | ENSP00000243167.8:p.Cys299Trp | |
| ENST00000484697.5:c.72+520T>G | ||
| ENST00000489366.2:n.112T>G | ||
| ENST00000493735.5:n.1118T>G | ||
| NM_001441.3:c.897T>G MANE Select | NP_001432.2:p.Cys299Trp |