Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763694C>T , CM000674.2:g.57763694C>T | GRCh38 |
| NC_000012.11:g.58157477C>T , CM000674.1:g.58157477C>T | GRCh37 |
| NC_000012.10:g.56443744C>T | NCBI36 |
| NG_007076.1:g.8500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1411G>A | ENSP00000518840.1:p.Ala471Thr | |
| ENST00000713545.1:c.*335G>A | ENSP00000518841.1:n.*335G>A | |
| ENST00000228606.9:c.1330G>A MANE Select | ENSP00000228606.4:p.Ala444Thr | |
| ENST00000228606.8:c.1330G>A | ENSP00000228606.4:p.Ala444Thr | |
| ENST00000547344.5:n.1469G>A | ||
| NM_000785.3:c.1330G>A | NP_000776.1:p.Ala444Thr | |
| NM_000785.4:c.1330G>A MANE Select | NP_000776.1:p.Ala444Thr |