Linked Data
ClinVar Variation Id:
192239
dbSNP Id:
rs201422368
ExAC:
1:111663161 C / T
gnomAD v2:
1-111663161-C-T
gnomAD v3:
1-111120539-C-T
gnomAD v4:
1-111120539-C-T
PubMed:
PMID:25983245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111120539C>T , CM000663.2:g.111120539C>T | GRCh38 |
| NC_000001.10:g.111663161C>T , CM000663.1:g.111663161C>T | GRCh37 |
| NC_000001.9:g.111464684C>T | NCBI36 |
| NG_053089.1:g.24678G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000484310.6:c.494G>A MANE Select | ENSP00000503400.1:p.Trp165Ter | |
| ENST00000539140.6:c.494G>A | ENSP00000437718.1:p.Trp165Ter | |
| ENST00000286692.8:c.494G>A | ENSP00000286692.4:p.Trp165Ter | |
| ENST00000461449.5:n.268G>A | ||
| ENST00000477588.5:n.58G>A | ||
| ENST00000477769.1:n.62G>A | ||
| ENST00000480600.6:n.510G>A | ||
| ENST00000484310.5:n.738G>A | ||
| ENST00000496430.6:c.*181G>A | ENSP00000473779.1:n.*181G>A | |
| ENST00000539140.5:c.494G>A | ENSP00000437718.1:p.Trp165Ter | |
| NM_178454.4:c.494G>A | NP_848549.3:p.Trp165Ter | |
| XM_005270469.1:c.494G>A | XP_005270526.1:p.Trp165Ter | |
| XM_005270470.1:c.494G>A | XP_005270527.1:p.Trp165Ter | |
| XM_006710361.1:c.224G>A | XP_006710424.1:p.Trp75Ter | |
| XM_006710362.1:c.224G>A | XP_006710425.1:p.Trp75Ter | |
| XM_011540707.1:c.494G>A | XP_011539009.1:p.Trp165Ter | |
| XM_011540708.1:c.494G>A | XP_011539010.1:p.Trp165Ter | |
| NM_001349881.1:c.494G>A | NP_001336810.1:p.Trp165Ter | |
| NM_001349882.1:c.494G>A | NP_001336811.1:p.Trp165Ter | |
| NM_001349884.1:c.494G>A | NP_001336813.1:p.Trp165Ter | |
| NM_001349885.1:c.494G>A | NP_001336814.1:p.Trp165Ter | |
| NM_001349886.1:c.224G>A | NP_001336815.1:p.Trp75Ter | |
| NM_001349887.1:c.224G>A | NP_001336816.1:p.Trp75Ter | |
| NM_001349888.1:c.224G>A | NP_001336817.1:p.Trp75Ter | |
| NM_001349889.1:c.104G>A | NP_001336818.1:p.Trp35Ter | |
| NM_001349890.1:c.104G>A | NP_001336819.1:p.Trp35Ter | |
| NM_001349891.1:c.104G>A | NP_001336820.1:p.Trp35Ter | |
| NM_001349892.1:c.104G>A | NP_001336821.1:p.Trp35Ter | |
| NM_001349893.1:c.104G>A | NP_001336822.1:p.Trp35Ter | |
| NM_178454.5:c.494G>A | NP_848549.3:p.Trp165Ter | |
| NR_146301.1:n.751G>A | ||
| NR_146302.1:n.611G>A | ||
| NR_146303.1:n.962G>A | ||
| NR_146304.1:n.822G>A | ||
| NR_146305.1:n.805G>A | ||
| NR_146306.1:n.777G>A | ||
| NR_146307.1:n.850G>A | ||
| NR_146308.1:n.917G>A | ||
| NM_001349881.2:c.494G>A | NP_001336810.1:p.Trp165Ter | |
| NM_001349882.2:c.494G>A | NP_001336811.1:p.Trp165Ter | |
| NM_001349884.2:c.494G>A MANE Select | NP_001336813.1:p.Trp165Ter | |
| NM_001349885.2:c.494G>A | NP_001336814.1:p.Trp165Ter | |
| NM_001349886.2:c.224G>A | NP_001336815.1:p.Trp75Ter | |
| NM_001349887.2:c.224G>A | NP_001336816.1:p.Trp75Ter | |
| NM_001349888.2:c.224G>A | NP_001336817.1:p.Trp75Ter | |
| NM_001349889.2:c.104G>A | NP_001336818.1:p.Trp35Ter | |
| NM_001349890.2:c.104G>A | NP_001336819.1:p.Trp35Ter | |
| NM_001349891.2:c.104G>A | NP_001336820.1:p.Trp35Ter | |
| NM_001349892.2:c.104G>A | NP_001336821.1:p.Trp35Ter | |
| NM_001349893.2:c.104G>A | NP_001336822.1:p.Trp35Ter | |
| NM_178454.6:c.494G>A | NP_848549.3:p.Trp165Ter | |
| NR_146301.2:n.628G>A | ||
| NR_146302.2:n.488G>A | ||
| NR_146303.2:n.839G>A | ||
| NR_146304.2:n.699G>A | ||
| NR_146305.2:n.682G>A | ||
| NR_146306.2:n.654G>A | ||
| NR_146307.2:n.727G>A | ||
| NR_146308.2:n.794G>A |