Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930154G>T , CM000685.2:g.119930154G>T | GRCh38 |
| NC_000023.10:g.119064117G>T , CM000685.1:g.119064117G>T | GRCh37 |
| NC_000023.9:g.118948145G>T | NCBI36 |
| NG_021260.1:g.18619C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.935C>A MANE Select | ENSP00000360464.3:p.Ala312Asp | |
| ENST00000652253.1:c.931C>A | ||
| ENST00000371410.4:c.935C>A | ENSP00000360464.3:p.Ala312Asp | |
| ENST00000477789.5:n.1863C>A | ||
| ENST00000482407.1:n.734C>A | ||
| NM_024528.3:c.935C>A | NP_078804.2:p.Ala312Asp | |
| XM_017029842.1:c.638C>A | XP_016885331.1:p.Ala213Asp | |
| NM_024528.4:c.935C>A MANE Select | NP_078804.2:p.Ala312Asp |