Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157052T>A , CM000681.2:g.55157052T>A | GRCh38 |
| NC_000019.9:g.55668420T>A , CM000681.1:g.55668420T>A | GRCh37 |
| NC_000019.8:g.60360232T>A | NCBI36 |
| NG_007866.2:g.5681A>T , LRG_432:g.5681A>T | |
| NG_032759.1:g.14671A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.106A>T MANE Select | NP_000354.4:p.Lys36Ter |
| ENST00000344887.10:c.106A>T MANE Select | ENSP00000341838.5:p.Lys36Ter |
| NM_000363.4:c.106A>T , LRG_432t1:c.106A>T | NP_000354.4:p.Lys36Ter |
| ENST00000344887.9:c.106A>T | ENSP00000341838.5:p.Lys36Ter |
| ENST00000586446.1:n.248A>T | |
| ENST00000586669.5:n.114A>T | |
| ENST00000587176.5:n.290A>T | |
| ENST00000587871.1:c.725A>T | |
| ENST00000590463.1:n.278A>T | |
| ENST00000665070.1:c.106A>T | ENSP00000499482.1:p.Lys36Ter |