Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886632G>T , CM000663.2:g.159886632G>T | GRCh38 |
| NC_000001.10:g.159856422G>T , CM000663.1:g.159856422G>T | GRCh37 |
| NC_000001.9:g.158123046G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.646C>A MANE Select | ENSP00000357079.4:p.Gln216Lys | |
| ENST00000368099.8:c.646C>A | ENSP00000357079.4:p.Gln216Lys | |
| ENST00000426543.6:c.391C>A | ENSP00000403044.2:p.Gln131Lys | |
| ENST00000476696.5:c.646C>A | ENSP00000483972.1:p.Gln216Lys | |
| ENST00000479940.2:c.391C>A | ENSP00000478944.1:p.Gln131Lys | |
| NM_012337.2:c.646C>A | NP_036469.2:p.Gln216Lys | |
| NM_012337.3:c.646C>A MANE Select | NP_036469.2:p.Gln216Lys |