Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836264T>G , CM000672.2:g.99836264T>G | GRCh38 |
| NC_000010.10:g.101596021T>G , CM000672.1:g.101596021T>G | GRCh37 |
| NC_000010.9:g.101586011T>G | NCBI36 |
| NG_011798.1:g.58559T>G | |
| NG_011798.2:g.58667T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3588T>G MANE Select | ENSP00000497274.1:p.Cys1196Trp | |
| ENST00000370449.8:c.3588T>G | ENSP00000359478.4:p.Cys1196Trp | |
| NM_000392.4:c.3588T>G | NP_000383.1:p.Cys1196Trp | |
| XM_006717630.2:c.2892T>G | XP_006717693.1:p.Cys964Trp | |
| XR_945604.1:n.3777T>G | ||
| XR_945605.1:n.3779T>G | ||
| NM_000392.5:c.3588T>G MANE Select | NP_000383.2:p.Cys1196Trp | |
| XM_006717630.3:c.2892T>G | XP_006717693.1:p.Cys964Trp | |
| XR_945604.3:n.3831T>G | ||
| XR_945605.3:n.3831T>G |