Linked Data
ClinVar Variation Id:
1524454
dbSNP Id:
rs781864075
ExAC:
X:153577327 G / A
gnomAD v2:
X-153577327-G-A
gnomAD v3:
X-154348959-G-A
gnomAD v4:
X-154348959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154348959G>A , CM000685.2:g.154348959G>A | GRCh38 |
| NC_000023.10:g.153577327G>A , CM000685.1:g.153577327G>A | GRCh37 |
| NC_000023.9:g.153230521G>A | NCBI36 |
| NG_011506.1:g.30680C>T | |
| NG_011506.2:g.30680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7810C>T | ENSP00000353467.4:p.Arg2604Trp | |
| ENST00000369850.10:c.7834C>T MANE Select | ENSP00000358866.3:p.Arg2612Trp | |
| ENST00000369856.8:c.7753C>T | ENSP00000358872.4:p.Arg2585Trp | |
| ENST00000422373.6:c.4615C>T | ENSP00000416926.2:p.Arg1539Trp | |
| ENST00000610817.5:c.7891C>T | ENSP00000480593.2:n.7891C>T | |
| ENST00000673639.2:c.280-269C>T | ||
| ENST00000676696.1:c.8113C>T | ENSP00000503392.1:n.8113C>T | |
| ENST00000678304.1:n.3552C>T | ||
| ENST00000344736.8:c.7714C>T | ENSP00000358863.3:p.Arg2572Trp | |
| ENST00000360319.8:c.7810C>T | ENSP00000353467.4:p.Arg2604Trp | |
| ENST00000369850.7:c.7834C>T | ENSP00000358866.3:p.Arg2612Trp | |
| ENST00000369856.7:c.7753C>T | ENSP00000358872.4:p.Arg2585Trp | |
| ENST00000420627.5:c.7790C>T | ENSP00000408921.1:n.7790C>T | |
| ENST00000422373.5:c.7810C>T | ENSP00000416926.1:p.Arg2604Trp | |
| ENST00000462590.1:n.989C>T | ||
| ENST00000490936.5:n.5063C>T | ||
| ENST00000498411.1:n.68-129C>T | ||
| ENST00000498491.5:n.875C>T | ||
| ENST00000610817.4:c.6838C>T | ENSP00000480593.1:p.Arg2280Trp | |
| NM_001110556.1:c.7834C>T | NP_001104026.1:p.Arg2612Trp | |
| NM_001456.3:c.7810C>T | NP_001447.2:p.Arg2604Trp | |
| XM_011531127.1:c.7738C>T | XP_011529429.1:p.Arg2580Trp | |
| XM_011531128.1:c.7714C>T | XP_011529430.1:p.Arg2572Trp | |
| XM_011531129.1:c.7660C>T | XP_011529431.1:p.Arg2554Trp | |
| XM_011531130.1:c.7636C>T | XP_011529432.1:p.Arg2546Trp | |
| XM_011531131.1:c.7633C>T | XP_011529433.1:p.Arg2545Trp | |
| NM_001110556.2:c.7834C>T MANE Select | NP_001104026.1:p.Arg2612Trp | |
| NM_001456.4:c.7810C>T | NP_001447.2:p.Arg2604Trp |