Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328380C>T , CM000664.2:g.29328380C>T | GRCh38 |
| NC_000002.11:g.29551246C>T , CM000664.1:g.29551246C>T | GRCh37 |
| NC_000002.10:g.29404750C>T | NCBI36 |
| NG_009445.1:g.598187G>A , LRG_488:g.598187G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1384G>A MANE Select | ENSP00000373700.3:p.Ala462Thr | |
| ENST00000389048.7:c.1384G>A | ENSP00000373700.3:p.Ala462Thr | |
| ENST00000618119.4:c.253G>A | ENSP00000482733.1:p.Ala85Thr | |
| NM_004304.4:c.1384G>A | NP_004295.2:p.Ala462Thr | |
| XR_939920.1:n.693-5C>T | ||
| XR_939921.1:n.680+5852C>T | ||
| XR_001738688.2:n.2314G>A | ||
| XR_939920.2:n.583-5C>T | ||
| XR_939921.2:n.576+5852C>T | ||
| NM_004304.5:c.1384G>A MANE Select | NP_004295.2:p.Ala462Thr |