Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5949195A>C , CM000674.2:g.5949195A>C | GRCh38 |
| NC_000012.11:g.6058361A>C , CM000674.1:g.6058361A>C | GRCh37 |
| NC_000012.10:g.5928622A>C | NCBI36 |
| NG_009072.1:g.180476T>G | |
| NG_009072.2:g.180476T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8262T>G MANE Select | ENSP00000261405.5:p.Cys2754Trp | |
| ENST00000261405.9:c.8262T>G | ENSP00000261405.5:p.Cys2754Trp | |
| NM_000552.3:c.8262T>G | NP_000543.2:p.Cys2754Trp | |
| NM_000552.4:c.8262T>G | NP_000543.2:p.Cys2754Trp | |
| NM_000552.5:c.8262T>G MANE Select | NP_000543.3:p.Cys2754Trp |