Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024014C>A , CM000682.2:g.59024014C>A | GRCh38 |
| NC_000020.10:g.57599069C>A , CM000682.1:g.57599069C>A | GRCh37 |
| NC_000020.9:g.57032464C>A | NCBI36 |
| NG_023424.2:g.9761C>A , LRG_581:g.9761C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.587C>A MANE Select | ENSP00000217133.1:p.Ala196Glu | |
| ENST00000217133.1:c.587C>A | ENSP00000217133.1:p.Ala196Glu | |
| NM_030773.3:c.587C>A , LRG_581t1:c.587C>A | NP_110400.1:p.Ala196Glu | |
| XM_017028085.1:c.521C>A | XP_016883574.1:p.Ala174Glu | |
| NM_030773.4:c.587C>A MANE Select | NP_110400.1:p.Ala196Glu |