Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80925422C>T , CM000679.2:g.80925422C>T | GRCh38 |
| NC_000017.10:g.78899222C>T , CM000679.1:g.78899222C>T | GRCh37 |
| NC_000017.9:g.76513817C>T | NCBI36 |
| NG_013034.1:g.385598C>T | |
| NG_013034.2:g.385598C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020761.3:c.2861C>T MANE Select | NP_065812.1:p.Thr954Met |
| ENST00000306801.8:c.2861C>T MANE Select | ENSP00000307272.3:p.Thr954Met |
| NM_001163034.1:c.2387C>T | NP_001156506.1:p.Thr796Met |
| NM_001163034.2:c.2387C>T | NP_001156506.1:p.Thr796Met |
| NM_020761.2:c.2861C>T | NP_065812.1:p.Thr954Met |
| ENST00000306801.7:c.2861C>T | ENSP00000307272.3:p.Thr954Met |
| ENST00000544334.6:c.2387C>T | ENSP00000442479.2:p.Thr796Met |
| ENST00000575542.5:n.2348C>T | |
| ENST00000697423.1:c.2915C>T | ENSP00000513305.1:p.Thr972Met |