Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157585G>T , CM000681.2:g.55157585G>T | GRCh38 |
| NC_000019.9:g.55668953G>T , CM000681.1:g.55668953G>T | GRCh37 |
| NC_000019.8:g.60360765G>T | NCBI36 |
| NG_007866.2:g.5148C>A , LRG_432:g.5148C>A | |
| NG_032759.1:g.14138C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.5C>A MANE Select | NP_000354.4:p.Ala2Glu |
| ENST00000344887.10:c.5C>A MANE Select | ENSP00000341838.5:p.Ala2Glu |
| NM_000363.4:c.5C>A , LRG_432t1:c.5C>A | NP_000354.4:p.Ala2Glu |
| ENST00000344887.9:c.5C>A | ENSP00000341838.5:p.Ala2Glu |
| ENST00000586446.1:n.148C>A | |
| ENST00000587176.5:n.189C>A | |
| ENST00000587871.1:c.625C>A | |
| ENST00000590463.1:n.132C>A | |
| ENST00000665070.1:c.5C>A | ENSP00000499482.1:p.Ala2Glu |