Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157054G>T , CM000681.2:g.55157054G>T | GRCh38 |
| NC_000019.9:g.55668422G>T , CM000681.1:g.55668422G>T | GRCh37 |
| NC_000019.8:g.60360234G>T | NCBI36 |
| NG_007866.2:g.5679C>A , LRG_432:g.5679C>A | |
| NG_032759.1:g.14669C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.104C>A MANE Select | NP_000354.4:p.Ala35Asp |
| ENST00000344887.10:c.104C>A MANE Select | ENSP00000341838.5:p.Ala35Asp |
| NM_000363.4:c.104C>A , LRG_432t1:c.104C>A | NP_000354.4:p.Ala35Asp |
| ENST00000344887.9:c.104C>A | ENSP00000341838.5:p.Ala35Asp |
| ENST00000586446.1:n.246C>A | |
| ENST00000586669.5:n.112C>A | |
| ENST00000587176.5:n.288C>A | |
| ENST00000587871.1:c.723C>A | |
| ENST00000590463.1:n.276C>A | |
| ENST00000665070.1:c.104C>A | ENSP00000499482.1:p.Ala35Asp |