Linked Data
ClinVar Variation Id:
465012
dbSNP Id:
rs782761341
ExAC:
X:153581008 G / A
gnomAD v2:
X-153581008-G-A
gnomAD v3:
X-154352640-G-A
gnomAD v4:
X-154352640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352640G>A , CM000685.2:g.154352640G>A | GRCh38 |
| NC_000023.10:g.153581008G>A , CM000685.1:g.153581008G>A | GRCh37 |
| NC_000023.9:g.153234202G>A | NCBI36 |
| NG_011506.1:g.26999C>T | |
| NG_011506.2:g.26999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6391C>T | ENSP00000353467.4:p.Arg2131Trp | |
| ENST00000369850.10:c.6415C>T MANE Select | ENSP00000358866.3:p.Arg2139Trp | |
| ENST00000369856.8:c.6334C>T | ENSP00000358872.4:p.Arg2112Trp | |
| ENST00000422373.6:c.3196C>T | ENSP00000416926.2:p.Arg1066Trp | |
| ENST00000610817.5:c.6472C>T | ENSP00000480593.2:n.6472C>T | |
| ENST00000673639.2:c.280-3950C>T | ||
| ENST00000676696.1:c.6694C>T | ENSP00000503392.1:n.6694C>T | |
| ENST00000678304.1:n.1594C>T | ||
| ENST00000344736.8:c.6295C>T | ENSP00000358863.3:p.Arg2099Trp | |
| ENST00000360319.8:c.6391C>T | ENSP00000353467.4:p.Arg2131Trp | |
| ENST00000369850.7:c.6415C>T | ENSP00000358866.3:p.Arg2139Trp | |
| ENST00000369856.7:c.6334C>T | ENSP00000358872.4:p.Arg2112Trp | |
| ENST00000415241.1:c.617C>T | ||
| ENST00000420627.5:c.6371C>T | ENSP00000408921.1:n.6371C>T | |
| ENST00000422373.5:c.6391C>T | ENSP00000416926.1:p.Arg2131Trp | |
| ENST00000444578.1:c.322+132C>T | ENSP00000397824.1:n.322+132C>T | |
| ENST00000466325.1:n.726C>T | ||
| ENST00000474358.5:n.48C>T | ||
| ENST00000490936.5:n.2404C>T | ||
| ENST00000498411.1:n.67+177C>T | ||
| ENST00000610817.4:c.5845-690C>T | ENSP00000480593.1:n.5845-690C>T | |
| NM_001110556.1:c.6415C>T | NP_001104026.1:p.Arg2139Trp | |
| NM_001456.3:c.6391C>T | NP_001447.2:p.Arg2131Trp | |
| XM_011531127.1:c.6319C>T | XP_011529429.1:p.Arg2107Trp | |
| XM_011531128.1:c.6295C>T | XP_011529430.1:p.Arg2099Trp | |
| XM_011531129.1:c.6241C>T | XP_011529431.1:p.Arg2081Trp | |
| XM_011531130.1:c.6217C>T | XP_011529432.1:p.Arg2073Trp | |
| XM_011531131.1:c.6214C>T | XP_011529433.1:p.Arg2072Trp | |
| NM_001110556.2:c.6415C>T MANE Select | NP_001104026.1:p.Arg2139Trp | |
| NM_001456.4:c.6391C>T | NP_001447.2:p.Arg2131Trp |