Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124865533G= , CM000673.2:g.124865533G= | GRCh38 |
| NC_000011.9:g.124735429G= , CM000673.1:g.124735429G= | GRCh37 |
| NC_000011.8:g.124240639G= | NCBI36 |
| NG_016214.1:g.5125G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.-45G= MANE Select | NP_071765.2:n.-45G= |
| ENST00000397801.6:c.-45G= MANE Select | ENSP00000380903.1:n.-45G= |
| NM_022370.3:c.-45G= | NP_071765.2:n.-45G= |
| ENST00000397801.5:c.-45G= | ENSP00000380903.1:n.-45G= |
| XM_011542953.1:c.433G= | XP_011541255.1:p.Gly145= |