Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144250A>C , CM000670.2:g.38144250A>C | GRCh38 |
| NC_000008.10:g.38001768A>C , CM000670.1:g.38001768A>C | GRCh37 |
| NC_000008.9:g.38120925A>C | NCBI36 |
| NG_011827.1:g.11833T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*23T>G MANE Select | ENSP00000276449.3:n.*23T>G | |
| ENST00000276449.8:c.*23T>G | ENSP00000276449.3:n.*23T>G | |
| ENST00000520114.1:n.2850T>G | ||
| ENST00000522050.1:c.723T>G | ||
| NM_000349.2:c.*23T>G | NP_000340.2:n.*23T>G | |
| XM_006716392.1:c.787T>G | XP_006716455.1:p.Cys263Gly | |
| NM_000349.3:c.*23T>G MANE Select | NP_000340.2:n.*23T>G |