Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630402A>C , CM000674.2:g.123630402A>C | GRCh38 |
| NC_000012.11:g.124114949A>C , CM000674.1:g.124114949A>C | GRCh37 |
| NC_000012.10:g.122680902A>C | NCBI36 |
| NG_015862.1:g.8375T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.247T>G MANE Select | ENSP00000416250.2:p.Tyr83Asp | |
| ENST00000424014.6:c.247T>G | ENSP00000416250.2:p.Tyr83Asp | |
| ENST00000452159.6:n.378T>G | ||
| ENST00000534960.5:c.294T>G | ||
| ENST00000537073.1:c.247T>G | ENSP00000444183.1:p.Tyr83Asp | |
| ENST00000539951.5:c.208T>G | ENSP00000438060.1:p.Tyr70Asp | |
| ENST00000543940.1:n.347T>G | ||
| NM_001414.3:c.247T>G | NP_001405.1:p.Tyr83Asp | |
| NM_001414.4:c.247T>G MANE Select | NP_001405.1:p.Tyr83Asp |