Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49249543A>G , CM000685.2:g.49249543A>G | GRCh38 |
| NC_000023.10:g.49106004A>G , CM000685.1:g.49106004A>G | GRCh37 |
| NC_000023.9:g.48992948A>G | NCBI36 |
| NG_007392.1:g.20285T>C , LRG_62:g.20285T>C | |
| NG_021311.2:g.19079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376227.4:c.1670A>G MANE Select | ENSP00000365401.3:p.Tyr557Cys | |
| ENST00000376227.3:c.1670A>G | ENSP00000365401.3:p.Tyr557Cys | |
| NM_014008.4:c.1670A>G | NP_054727.1:p.Tyr557Cys | |
| XM_005272599.2:c.1667A>G | XP_005272656.1:p.Tyr556Cys | |
| XR_430506.1:n.1768A>G | ||
| XM_005272599.4:c.1667A>G | XP_005272656.1:p.Tyr556Cys | |
| XR_430506.3:n.1781A>G | ||
| NM_014008.5:c.1670A>G MANE Select | NP_054727.1:p.Tyr557Cys |