Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124865533G>T , CM000673.2:g.124865533G>T | GRCh38 |
| NC_000011.9:g.124735429G>T , CM000673.1:g.124735429G>T | GRCh37 |
| NC_000011.8:g.124240639G>T | NCBI36 |
| NG_016214.1:g.5125G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.-45G>T MANE Select | NP_071765.2:n.-45G>T |
| ENST00000397801.6:c.-45G>T MANE Select | ENSP00000380903.1:n.-45G>T |
| NM_022370.3:c.-45G>T | NP_071765.2:n.-45G>T |
| ENST00000397801.5:c.-45G>T | ENSP00000380903.1:n.-45G>T |
| XM_011542953.1:c.433G>T | XP_011541255.1:p.Gly145Cys |