Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6620263T>A , CM000671.2:g.6620263T>A | GRCh38 |
| NC_000009.11:g.6620263T>A , CM000671.1:g.6620263T>A | GRCh37 |
| NC_000009.10:g.6610263T>A | NCBI36 |
| NG_016397.1:g.30430A>T , LRG_643:g.30430A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.391A>T MANE Select | NP_000161.2:p.Arg131Ter |
| ENST00000321612.8:c.391A>T MANE Select | ENSP00000370737.4:p.Arg131Ter |
| NM_000170.2:c.391A>T , LRG_643t1:c.391A>T | NP_000161.2:p.Arg131Ter |
| ENST00000321612.6:c.391A>T | ENSP00000370737.3:p.Arg131Ter |
| ENST00000639020.1:c.-15A>T | ENSP00000491392.1:n.-15A>T |
| ENST00000639364.1:n.91A>T | |
| ENST00000639840.1:c.97A>T | ENSP00000491161.1:p.Arg33Ter |
| ENST00000639954.1:n.179-9907A>T | |
| ENST00000640592.1:n.274A>T |