Linked Data
dbSNP Id:
rs1328906812
gnomAD v2:
11-119149240-T-G
gnomAD v4:
11-119278530-T-G
COSMIC:
COSM133827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278530T>G , CM000673.2:g.119278530T>G | GRCh38 |
| NC_000011.9:g.119149240T>G , CM000673.1:g.119149240T>G | GRCh37 |
| NC_000011.8:g.118654450T>G | NCBI36 |
| NG_016808.1:g.77251T>G , LRG_608:g.77251T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*700T>G | ENSP00000515005.1:n.*700T>G | |
| ENST00000264033.6:c.1248T>G MANE Select | ENSP00000264033.3:p.Cys416Trp | |
| ENST00000637974.1:c.1242T>G | ENSP00000490763.1:p.Cys414Trp | |
| ENST00000264033.5:c.1248T>G | ENSP00000264033.3:p.Cys416Trp | |
| ENST00000634586.1:c.1248T>G | ENSP00000489218.1:p.Cys416Trp | |
| ENST00000634840.1:c.1248T>G | ENSP00000489324.1:p.Cys416Trp | |
| NM_005188.3:c.1248T>G , LRG_608t1:c.1248T>G | NP_005179.2:p.Cys416Trp | |
| XM_011543057.1:c.1248T>G | XP_011541359.1:p.Cys416Trp | |
| NM_005188.4:c.1248T>G MANE Select | NP_005179.2:p.Cys416Trp |