Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154833T>A , CM000668.2:g.3154833T>A | GRCh38 |
| NC_000006.11:g.3155067T>A , CM000668.1:g.3155067T>A | GRCh37 |
| NC_000006.10:g.3100066T>A | NCBI36 |
| NG_042223.1:g.7717A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.368A>T MANE Select | ENSP00000369703.2:p.Glu123Val | |
| ENST00000679400.1:n.424A>T | ||
| ENST00000679907.1:n.756A>T | ||
| ENST00000680036.1:n.1150A>T | ||
| ENST00000680967.1:n.1458A>T | ||
| ENST00000333628.3:c.368A>T | ENSP00000369703.2:p.Glu123Val | |
| ENST00000489942.1:n.563A>T | ||
| NM_001069.2:c.368A>T | NP_001060.1:p.Glu123Val | |
| NM_001310315.1:c.113A>T | NP_001297244.1:p.Glu38Val | |
| NM_001069.3:c.368A>T MANE Select | NP_001060.1:p.Glu123Val | |
| NM_001310315.2:c.113A>T | NP_001297244.1:p.Glu38Val |