Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965487T>G , CM000663.2:g.11965487T>G | GRCh38 |
| NC_000001.10:g.12025544T>G , CM000663.1:g.12025544T>G | GRCh37 |
| NC_000001.9:g.11948131T>G | NCBI36 |
| NG_008159.1:g.35799T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1478T>G MANE Select | ENSP00000196061.4:p.Phe493Cys | |
| ENST00000196061.4:c.1478T>G | ENSP00000196061.4:p.Phe493Cys | |
| ENST00000470133.1:n.92T>G | ||
| ENST00000491536.5:n.106T>G | ||
| NM_000302.3:c.1478T>G | NP_000293.2:p.Phe493Cys | |
| NM_001316320.1:c.1619T>G | NP_001303249.1:p.Phe540Cys | |
| XM_011541594.1:c.1559T>G | XP_011539896.1:p.Phe520Cys | |
| XM_024447707.1:c.812T>G | XP_024303475.1:p.Phe271Cys | |
| NM_000302.4:c.1478T>G MANE Select | NP_000293.2:p.Phe493Cys | |
| NM_001316320.2:c.1619T>G | NP_001303249.1:p.Phe540Cys |