Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97426384A>G , CM000672.2:g.97426384A>G | GRCh38 |
| NC_000010.10:g.99186141A>G , CM000672.1:g.99186141A>G | GRCh37 |
| NC_000010.9:g.99176131A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334828.6:c.77A>G MANE Select | ENSP00000359991.4:p.Tyr26Cys | |
| ENST00000334828.5:c.77A>G | ENSP00000359991.4:p.Tyr26Cys | |
| ENST00000473929.1:n.92A>G | ||
| NM_002629.2:c.77A>G | NP_002620.1:p.Tyr26Cys | |
| NM_002629.3:c.77A>G | NP_002620.1:p.Tyr26Cys | |
| NM_002629.4:c.77A>G MANE Select | NP_002620.1:p.Tyr26Cys |