Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154816A>T , CM000668.2:g.3154816A>T | GRCh38 |
| NC_000006.11:g.3155050A>T , CM000668.1:g.3155050A>T | GRCh37 |
| NC_000006.10:g.3100049A>T | NCBI36 |
| NG_042223.1:g.7734T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.385T>A MANE Select | ENSP00000369703.2:p.Cys129Ser | |
| ENST00000679400.1:n.441T>A | ||
| ENST00000679907.1:n.773T>A | ||
| ENST00000680036.1:n.1167T>A | ||
| ENST00000680967.1:n.1475T>A | ||
| ENST00000333628.3:c.385T>A | ENSP00000369703.2:p.Cys129Ser | |
| ENST00000489942.1:n.580T>A | ||
| NM_001069.2:c.385T>A | NP_001060.1:p.Cys129Ser | |
| NM_001310315.1:c.130T>A | NP_001297244.1:p.Cys44Ser | |
| NM_001069.3:c.385T>A MANE Select | NP_001060.1:p.Cys129Ser | |
| NM_001310315.2:c.130T>A | NP_001297244.1:p.Cys44Ser |