Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154808G>A , CM000681.2:g.55154808G>A | GRCh38 |
| NC_000019.9:g.55666176G>A , CM000681.1:g.55666176G>A | GRCh37 |
| NC_000019.8:g.60357988G>A | NCBI36 |
| NG_007866.2:g.7925C>T , LRG_432:g.7925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.305C>T MANE Select | ENSP00000341838.5:p.Ala102Val | |
| ENST00000665070.1:c.305C>T | ENSP00000499482.1:p.Ala102Val | |
| ENST00000344887.9:c.305C>T | ENSP00000341838.5:p.Ala102Val | |
| ENST00000585806.5:n.304C>T | ||
| ENST00000586669.5:n.313C>T | ||
| ENST00000587176.5:n.489C>T | ||
| ENST00000587871.1:c.924C>T | ||
| ENST00000588882.1:c.230C>T | ENSP00000466729.1:p.Ala77Val | |
| ENST00000590463.1:n.477C>T | ||
| NM_000363.4:c.305C>T , LRG_432t1:c.305C>T | NP_000354.4:p.Ala102Val | |
| NM_000363.5:c.305C>T MANE Select | NP_000354.4:p.Ala102Val |