Linked Data
ClinVar Variation Id:
213510
dbSNP Id:
rs782557713
ExAC:
X:153578119 G / A
gnomAD v2:
X-153578119-G-A
gnomAD v3:
X-154349751-G-A
gnomAD v4:
X-154349751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154349751G>A , CM000685.2:g.154349751G>A | GRCh38 |
| NC_000023.10:g.153578119G>A , CM000685.1:g.153578119G>A | GRCh37 |
| NC_000023.9:g.153231313G>A | NCBI36 |
| NG_011506.1:g.29888C>T | |
| NG_011506.2:g.29888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7426C>T | ENSP00000353467.4:p.Arg2476Cys | |
| ENST00000369850.10:c.7450C>T MANE Select | ENSP00000358866.3:p.Arg2484Cys | |
| ENST00000369856.8:c.7369C>T | ENSP00000358872.4:p.Arg2457Cys | |
| ENST00000422373.6:c.4231C>T | ENSP00000416926.2:p.Arg1411Cys | |
| ENST00000610817.5:c.7507C>T | ENSP00000480593.2:n.7507C>T | |
| ENST00000673639.2:c.280-1061C>T | ||
| ENST00000676696.1:c.7729C>T | ENSP00000503392.1:n.7729C>T | |
| ENST00000678304.1:n.3168C>T | ||
| ENST00000344736.8:c.7330C>T | ENSP00000358863.3:p.Arg2444Cys | |
| ENST00000360319.8:c.7426C>T | ENSP00000353467.4:p.Arg2476Cys | |
| ENST00000369850.7:c.7450C>T | ENSP00000358866.3:p.Arg2484Cys | |
| ENST00000369856.7:c.7369C>T | ENSP00000358872.4:p.Arg2457Cys | |
| ENST00000420627.5:c.7406C>T | ENSP00000408921.1:n.7406C>T | |
| ENST00000422373.5:c.7426C>T | ENSP00000416926.1:p.Arg2476Cys | |
| ENST00000462590.1:n.605C>T | ||
| ENST00000490936.5:n.4679C>T | ||
| ENST00000498411.1:n.68-921C>T | ||
| ENST00000498491.5:n.491C>T | ||
| ENST00000610817.4:c.6454C>T | ENSP00000480593.1:p.Arg2152Cys | |
| NM_001110556.1:c.7450C>T | NP_001104026.1:p.Arg2484Cys | |
| NM_001456.3:c.7426C>T | NP_001447.2:p.Arg2476Cys | |
| XM_011531127.1:c.7354C>T | XP_011529429.1:p.Arg2452Cys | |
| XM_011531128.1:c.7330C>T | XP_011529430.1:p.Arg2444Cys | |
| XM_011531129.1:c.7276C>T | XP_011529431.1:p.Arg2426Cys | |
| XM_011531130.1:c.7252C>T | XP_011529432.1:p.Arg2418Cys | |
| XM_011531131.1:c.7249C>T | XP_011529433.1:p.Arg2417Cys | |
| NM_001110556.2:c.7450C>T MANE Select | NP_001104026.1:p.Arg2484Cys | |
| NM_001456.4:c.7426C>T | NP_001447.2:p.Arg2476Cys |