Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47233060C>T , CM000685.2:g.47233060C>T | GRCh38 |
| NC_000023.10:g.47092459C>T , CM000685.1:g.47092459C>T | GRCh37 |
| NC_000023.9:g.46977403C>T | NCBI36 |
| NG_012546.1:g.5146C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001371072.1:c.17C>T MANE Select | NP_001358001.1:p.Ala6Val |
| ENST00000377107.7:c.17C>T MANE Select | ENSP00000366311.2:p.Ala6Val |
| NM_004651.3:c.146C>T | NP_004642.2:p.Ala49Val |
| ENST00000218348.7:c.146C>T | ENSP00000218348.3:p.Ala49Val |
| ENST00000377107.6:c.17C>T | ENSP00000366311.2:p.Ala6Val |
| ENST00000469080.5:n.31C>T | |
| ENST00000478596.5:n.77C>T |