Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046965T>C , CM000663.2:g.94046965T>C | GRCh38 |
| NC_000001.10:g.94512521T>C , CM000663.1:g.94512521T>C | GRCh37 |
| NC_000001.9:g.94285109T>C | NCBI36 |
| NG_009073.1:g.79185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2872A>G MANE Select | ENSP00000359245.3:p.Ile958Val | |
| ENST00000649773.1:c.2650A>G | ENSP00000496882.1:p.Ile884Val | |
| ENST00000370225.3:c.2872A>G | ENSP00000359245.3:p.Ile958Val | |
| ENST00000536513.5:c.-64-6876A>G | ENSP00000439707.2:n.-64-6876A>G | |
| NM_000350.2:c.2872A>G | NP_000341.2:p.Ile958Val | |
| NM_000350.3:c.2872A>G MANE Select | NP_000341.2:p.Ile958Val |