Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373519C>T , CM000664.2:g.47373519C>T | GRCh38 |
| NC_000002.11:g.47600658C>T , CM000664.1:g.47600658C>T | GRCh37 |
| NC_000002.10:g.47454162C>T | NCBI36 |
| NG_012352.2:g.33357C>T , LRG_215:g.33357C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.133C>T MANE Select | NP_002345.2:p.Gln45Ter |
| ENST00000263735.9:c.133C>T MANE Select | ENSP00000263735.4:p.Gln45Ter |
| NM_002354.2:c.133C>T , LRG_215t1:c.133C>T | NP_002345.2:p.Gln45Ter |
| ENST00000263735.8:c.133C>T | ENSP00000263735.4:p.Gln45Ter |
| ENST00000405271.5:c.217C>T | ENSP00000385476.1:p.Gln73Ter |
| ENST00000419334.1:c.361C>T | ENSP00000389028.1:p.Gln121Ter |
| ENST00000456133.5:c.217C>T | ENSP00000410675.1:p.Gln73Ter |
| ENST00000474691.1:n.164C>T |