Linked Data
ClinVar Variation Id:
6422
ClinVar RCV Id:
RCV000006791
dbSNP Id:
rs121908890
ExAC:
5:131719846 C / T
gnomAD v2:
5-131719846-C-T
gnomAD v4:
5-132384154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132384154C>T , CM000667.2:g.132384154C>T | GRCh38 |
| NC_000005.9:g.131719846C>T , CM000667.1:g.131719846C>T | GRCh37 |
| NC_000005.8:g.131747745C>T | NCBI36 |
| NG_008982.1:g.19446C>T | |
| NG_008982.2:g.19451C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.505C>T | ENSP00000388838.2:p.Arg169Trp | |
| ENST00000435065.7:c.577C>T | ENSP00000402760.2:p.Arg193Trp | |
| ENST00000448810.6:c.505C>T | ENSP00000401860.2:p.Arg169Trp | |
| ENST00000686757.1:c.505C>T | ENSP00000510721.1:p.Arg169Trp | |
| ENST00000687740.1:n.639C>T | ||
| ENST00000688151.1:n.1684C>T | ||
| ENST00000689271.1:c.505C>T | ENSP00000510797.1:p.Arg169Trp | |
| ENST00000690900.1:c.505C>T | ENSP00000510703.1:p.Arg169Trp | |
| ENST00000692355.1:c.57C>T | ||
| ENST00000692413.1:c.505C>T | ENSP00000509374.1:p.Arg169Trp | |
| ENST00000692825.1:c.573C>T | ENSP00000509447.1:n.573C>T | |
| ENST00000693308.1:c.505C>T | ENSP00000509770.1:p.Arg169Trp | |
| ENST00000693763.1:n.639C>T | ||
| ENST00000245407.8:c.505C>T MANE Select | ENSP00000245407.3:p.Arg169Trp | |
| ENST00000245407.7:c.505C>T | ENSP00000245407.3:p.Arg169Trp | |
| ENST00000415928.5:c.274C>T | ENSP00000388838.1:p.Arg92Trp | |
| ENST00000435065.6:c.577C>T | ENSP00000402760.2:p.Arg193Trp | |
| ENST00000437841.6:c.394-1174C>T | ENSP00000400553.1:n.394-1174C>T | |
| ENST00000461013.5:n.7927C>T | ||
| NM_001308122.1:c.577C>T | NP_001295051.1:p.Arg193Trp | |
| NM_003060.3:c.505C>T | NP_003051.1:p.Arg169Trp | |
| XR_427718.1:n.846C>T | ||
| XR_948290.1:n.846C>T | ||
| XR_948291.1:n.846C>T | ||
| XM_011543590.2:c.-127C>T | XP_011541892.1:n.-127C>T | |
| XM_017009778.2:c.-24C>T | XP_016865267.1:n.-24C>T | |
| XR_001742215.1:n.846C>T | ||
| XR_001742216.1:n.846C>T | ||
| XR_427718.2:n.846C>T | ||
| XR_948290.2:n.846C>T | ||
| XR_948291.2:n.846C>T | ||
| NM_003060.4:c.505C>T MANE Select | NP_003051.1:p.Arg169Trp | |
| NM_001308122.2:c.577C>T | NP_001295051.1:p.Arg193Trp |