Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930146G>T , CM000685.2:g.119930146G>T | GRCh38 |
| NC_000023.10:g.119064109G>T , CM000685.1:g.119064109G>T | GRCh37 |
| NC_000023.9:g.118948137G>T | NCBI36 |
| NG_021260.1:g.18627C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.943C>A MANE Select | ENSP00000360464.3:p.Pro315Thr | |
| ENST00000652253.1:c.939C>A | ||
| ENST00000371410.4:c.943C>A | ENSP00000360464.3:p.Pro315Thr | |
| ENST00000477789.5:n.1871C>A | ||
| ENST00000482407.1:n.742C>A | ||
| NM_024528.3:c.943C>A | NP_078804.2:p.Pro315Thr | |
| XM_017029842.1:c.646C>A | XP_016885331.1:p.Pro216Thr | |
| NM_024528.4:c.943C>A MANE Select | NP_078804.2:p.Pro315Thr |