Linked Data
ClinVar Variation Id:
2169021
dbSNP Id:
rs150155800
ExAC:
4:126402750 C / T
gnomAD v2:
4-126402750-C-T
gnomAD v3:
4-125481595-C-T
gnomAD v4:
4-125481595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125481595C>T , CM000666.2:g.125481595C>T | GRCh38 |
| NC_000004.11:g.126402750C>T , CM000666.1:g.126402750C>T | GRCh37 |
| NC_000004.10:g.126622200C>T | NCBI36 |
| NG_033865.1:g.170184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.12679C>T MANE Select | ENSP00000377862.4:p.Arg4227Trp | |
| ENST00000674496.2:c.7450C>T | ENSP00000501473.2:p.Arg2484Trp | |
| ENST00000335110.5:c.7396C>T | ENSP00000335169.5:p.Arg2466Trp | |
| ENST00000394329.7:c.12673C>T | ENSP00000377862.3:p.Arg4225Trp | |
| NM_001291285.1:c.12679C>T | NP_001278214.1:p.Arg4227Trp | |
| NM_001291303.1:c.12679C>T | NP_001278232.1:p.Arg4227Trp | |
| NM_024582.4:c.12673C>T | NP_078858.4:p.Arg4225Trp | |
| XM_011532236.1:c.12679C>T | XP_011530538.1:p.Arg4227Trp | |
| XM_011532237.1:c.7450C>T | XP_011530539.1:p.Arg2484Trp | |
| XM_011532236.2:c.12679C>T | XP_011530538.1:p.Arg4227Trp | |
| XM_011532237.2:c.7450C>T | XP_011530539.1:p.Arg2484Trp | |
| NM_001291285.2:c.12679C>T | NP_001278214.1:p.Arg4227Trp | |
| NM_001291303.3:c.12679C>T MANE Select | NP_001278232.1:p.Arg4227Trp | |
| NM_024582.5:c.12673C>T | NP_078858.4:p.Arg4225Trp | |
| NM_001291285.3:c.12679C>T | NP_001278214.1:p.Arg4227Trp | |
| NM_024582.6:c.12673C>T | NP_078858.4:p.Arg4225Trp |