Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231733000G>A , CM000664.2:g.231733000G>A | GRCh38 |
| NC_000002.11:g.232597710G>A , CM000664.1:g.232597710G>A | GRCh37 |
| NC_000002.10:g.232305954G>A | NCBI36 |
| NG_034064.1:g.53328C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002601.4:c.405C>T MANE Select | NP_002592.1:p.Asp135= |
| ENST00000287600.9:c.405C>T MANE Select | ENSP00000287600.4:p.Asp135= |
| NM_001291018.1:c.*17C>T | NP_001277947.1:n.*17C>T |
| NM_001291018.2:c.*17C>T | NP_001277947.1:n.*17C>T |
| NM_002601.3:c.405C>T | NP_002592.1:p.Asp135= |
| ENST00000287600.8:c.405C>T | ENSP00000287600.4:p.Asp135= |
| ENST00000409772.5:c.*17C>T | ENSP00000387108.1:n.*17C>T |
| XM_011511342.1:c.348C>T | XP_011509644.1:p.Asp116= |