Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6044357G>C , CM000674.2:g.6044357G>C | GRCh38 |
| NC_000012.11:g.6153523G>C , CM000674.1:g.6153523G>C | GRCh37 |
| NC_000012.10:g.6023784G>C | NCBI36 |
| NG_009072.1:g.85314C>G | |
| NG_009072.2:g.85314C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.2376C>G MANE Select | NP_000543.3:p.Cys792Trp |
| ENST00000261405.10:c.2376C>G MANE Select | ENSP00000261405.5:p.Cys792Trp |
| NM_000552.3:c.2376C>G | NP_000543.2:p.Cys792Trp |
| NM_000552.4:c.2376C>G | NP_000543.2:p.Cys792Trp |
| ENST00000261405.9:c.2376C>G | ENSP00000261405.5:p.Cys792Trp |
| ENST00000538635.5:n.421-50423C>G |