Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124865527C>G , CM000673.2:g.124865527C>G | GRCh38 |
| NC_000011.9:g.124735423C>G , CM000673.1:g.124735423C>G | GRCh37 |
| NC_000011.8:g.124240633C>G | NCBI36 |
| NG_016214.1:g.5119C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.-51C>G MANE Select | NP_071765.2:n.-51C>G |
| ENST00000397801.6:c.-51C>G MANE Select | ENSP00000380903.1:n.-51C>G |
| NM_022370.3:c.-51C>G | NP_071765.2:n.-51C>G |
| ENST00000397801.5:c.-51C>G | ENSP00000380903.1:n.-51C>G |
| XM_011542953.1:c.427C>G | XP_011541255.1:p.Pro143Ala |