Linked Data
ClinVar Variation Id:
1991412
ClinVar RCV Id:
RCV002771607
dbSNP Id:
rs368509427
ExAC:
2:174228041 C / T
gnomAD v2:
2-174228041-C-T
gnomAD v3:
2-173363313-C-T
gnomAD v4:
2-173363313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173363313C>T , CM000664.2:g.173363313C>T | GRCh38 |
| NC_000002.11:g.174228041C>T , CM000664.1:g.174228041C>T | GRCh37 |
| NC_000002.10:g.173936287C>T | NCBI36 |
| NG_047202.1:g.14297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.235C>T | ENSP00000512251.1:p.Arg79Trp | |
| ENST00000695911.1:c.88C>T | ENSP00000512262.1:p.Arg30Trp | |
| ENST00000695912.1:c.469C>T | ENSP00000512263.1:p.Arg157Trp | |
| ENST00000695913.1:c.235C>T | ENSP00000512264.1:p.Arg79Trp | |
| ENST00000695914.1:c.232C>T | ENSP00000512265.1:p.Arg78Trp | |
| ENST00000306721.8:c.472C>T MANE Select | ENSP00000306968.3:p.Arg158Trp | |
| ENST00000306721.7:c.472C>T | ENSP00000306968.3:p.Arg158Trp | |
| ENST00000347703.7:c.235C>T | ENSP00000272789.4:p.Arg79Trp | |
| ENST00000410019.3:c.109C>T | ENSP00000386833.3:p.Arg37Trp | |
| ENST00000410101.7:c.340C>T | ENSP00000386656.3:p.Arg114Trp | |
| ENST00000435616.5:c.*213C>T | ENSP00000390470.1:n.*213C>T | |
| ENST00000467411.5:n.306C>T | ||
| ENST00000468359.1:n.419C>T | ||
| ENST00000496441.5:n.327C>T | ||
| NM_031942.4:c.472C>T | NP_114148.3:p.Arg158Trp | |
| NM_145810.2:c.235C>T | NP_665809.1:p.Arg79Trp | |
| XM_011511957.1:c.391C>T | XP_011510259.1:p.Arg131Trp | |
| XR_923034.1:n.575C>T | ||
| NM_031942.5:c.472C>T MANE Select | NP_114148.3:p.Arg158Trp | |
| NM_145810.3:c.235C>T | NP_665809.1:p.Arg79Trp |