Linked Data
ClinVar Variation Id:
391899
dbSNP Id:
rs200897773
ExAC:
2:73828453 C / T
gnomAD v2:
2-73828453-C-T
gnomAD v3:
2-73601326-C-T
gnomAD v4:
2-73601326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601326C>T , CM000664.2:g.73601326C>T | GRCh38 |
| NC_000002.11:g.73828453C>T , CM000664.1:g.73828453C>T | GRCh37 |
| NC_000002.10:g.73681961C>T | NCBI36 |
| NG_011690.1:g.220574C>T , LRG_741:g.220574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11623C>T | ENSP00000507671.1:p.Arg3875Trp | |
| ENST00000682801.1:c.11167-859C>T | ENSP00000507862.1:n.11167-859C>T | |
| ENST00000682859.1:c.11623C>T | ENSP00000508222.1:p.Arg3875Trp | |
| ENST00000683791.1:c.4709C>T | ||
| ENST00000684460.1:c.8904C>T | ||
| ENST00000684548.1:c.11623C>T | ENSP00000507421.1:p.Arg3875Trp | |
| ENST00000684590.1:c.6070C>T | ENSP00000507376.1:p.Arg2024Trp | |
| ENST00000684656.1:c.9088C>T | ||
| ENST00000613296.6:c.12004C>T MANE Select | ENSP00000482968.1:p.Arg4002Trp | |
| ENST00000651057.1:c.2158C>T | ENSP00000498504.1:p.Arg720Trp | |
| ENST00000651434.1:c.3360C>T | ||
| ENST00000651750.1:c.1260+445C>T | ||
| ENST00000652487.1:c.3175C>T | ||
| ENST00000464408.3:n.179C>T | ||
| ENST00000484298.5:c.11878C>T | ENSP00000478155.1:p.Arg3960Trp | |
| ENST00000613296.4:c.12004C>T | ENSP00000482968.1:p.Arg4002Trp | |
| ENST00000620466.4:n.5807C>T | ||
| NM_015120.4:c.12007C>T , LRG_741t1:c.12007C>T | NP_055935.4:p.Arg4003Trp | |
| NM_001378454.1:c.12004C>T MANE Select | NP_001365383.1:p.Arg4002Trp |