Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833842T>G , CM000686.2:g.12833842T>G | GRCh38 |
| NC_000024.9:g.14945768T>G , CM000686.1:g.14945768T>G | GRCh37 |
| NC_000024.8:g.13455162T>G | NCBI36 |
| NG_008311.1:g.137609T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.5176T>G | ENSP00000498372.1:p.Cys1726Gly | |
| ENST00000338981.7:c.5176T>G MANE Select | ENSP00000342812.3:p.Cys1726Gly | |
| ENST00000426564.6:n.5188T>G | ||
| NM_004654.3:c.5176T>G | NP_004645.2:p.Cys1726Gly | |
| XM_011531469.1:c.5176T>G | XP_011529771.1:p.Cys1726Gly | |
| XM_011531470.1:c.4942T>G | XP_011529772.1:p.Cys1648Gly | |
| XM_017030078.2:c.5191T>G | XP_016885567.1:p.Cys1731Gly | |
| NM_004654.4:c.5176T>G MANE Select | NP_004645.2:p.Cys1726Gly |