Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804095T>A , CM000685.2:g.37804095T>A | GRCh38 |
| NC_000023.10:g.37663348T>A , CM000685.1:g.37663348T>A | GRCh37 |
| NC_000023.9:g.37548292T>A | NCBI36 |
| NG_009065.1:g.29079T>A , LRG_53:g.29079T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*625T>A | ENSP00000512461.1:n.*625T>A | |
| ENST00000696171.1:c.1020T>A | ENSP00000512462.1:p.Asp340Glu | |
| ENST00000378588.5:c.1116T>A MANE Select | ENSP00000367851.4:p.Asp372Glu | |
| ENST00000378588.4:c.1116T>A | ENSP00000367851.4:p.Asp372Glu | |
| ENST00000465127.1:c.171+378095T>A | ENSP00000417050.1:n.171+378095T>A | |
| NM_000397.3:c.1116T>A , LRG_53t1:c.1116T>A | NP_000388.2:p.Asp372Glu | |
| XM_011543890.1:c.810T>A | XP_011542192.1:p.Asp270Glu | |
| NM_000397.4:c.1116T>A MANE Select | NP_000388.2:p.Asp372Glu |