Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114127695G>C , CM000665.2:g.114127695G>C | GRCh38 |
| NC_000003.11:g.113846542G>C , CM000665.1:g.113846542G>C | GRCh37 |
| NC_000003.10:g.115329232G>C | NCBI36 |
| NG_008842.2:g.76713C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000796.6:c.*1021C>G MANE Select | NP_000787.2:n.*1021C>G |
| ENST00000383673.5:c.*1021C>G MANE Select | ENSP00000373169.2:n.*1021C>G |
| NM_033663.6:c.*1021C>G | NP_387512.3:n.*1021C>G |
| ENST00000698213.1:c.*1528C>G | ENSP00000513607.1:n.*1528C>G |
| XM_017005829.1:c.*1021C>G | XP_016861318.1:n.*1021C>G |