Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703999C>G , CM000677.2:g.66703999C>G | GRCh38 |
| NC_000015.9:g.66996337C>G , CM000677.1:g.66996337C>G | GRCh37 |
| NC_000015.8:g.64783391C>G | NCBI36 |
| NG_012244.1:g.6664C>G | |
| NG_012244.2:g.6664C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.741C>G MANE Select | ENSP00000288840.5:p.Cys247Trp | |
| ENST00000288840.9:c.741C>G | ENSP00000288840.5:p.Cys247Trp | |
| ENST00000557916.5:c.741C>G | ENSP00000452955.1:p.Cys247Trp | |
| ENST00000612349.1:n.923C>G | ||
| NM_005585.4:c.741C>G | NP_005576.3:p.Cys247Trp | |
| NR_027654.1:n.1664C>G | ||
| XR_931825.1:n.1900C>G | ||
| XR_931826.1:n.1900C>G | ||
| XR_931827.1:n.1900C>G | ||
| XR_931827.2:n.1890C>G | ||
| NM_005585.5:c.741C>G MANE Select | NP_005576.3:p.Cys247Trp | |
| NR_027654.2:n.1764C>G |