Linked Data
ClinVar Variation Id:
213511
dbSNP Id:
rs200836471
ExAC:
X:153577234 G / A
gnomAD v2:
X-153577234-G-A
gnomAD v3:
X-154348866-G-A
gnomAD v4:
X-154348866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154348866G>A , CM000685.2:g.154348866G>A | GRCh38 |
| NC_000023.10:g.153577234G>A , CM000685.1:g.153577234G>A | GRCh37 |
| NC_000023.9:g.153230428G>A | NCBI36 |
| NG_011506.1:g.30773C>T | |
| NG_011506.2:g.30773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7903C>T | ENSP00000353467.4:p.Arg2635Cys | |
| ENST00000369850.10:c.7927C>T MANE Select | ENSP00000358866.3:p.Arg2643Cys | |
| ENST00000369856.8:c.7846C>T | ENSP00000358872.4:p.Arg2616Cys | |
| ENST00000422373.6:c.4708C>T | ENSP00000416926.2:p.Arg1570Cys | |
| ENST00000610817.5:c.7984C>T | ENSP00000480593.2:n.7984C>T | |
| ENST00000673639.2:c.280-176C>T | ||
| ENST00000676696.1:c.8206C>T | ENSP00000503392.1:n.8206C>T | |
| ENST00000678304.1:n.3645C>T | ||
| ENST00000344736.8:c.7807C>T | ENSP00000358863.3:p.Arg2603Cys | |
| ENST00000360319.8:c.7903C>T | ENSP00000353467.4:p.Arg2635Cys | |
| ENST00000369850.7:c.7927C>T | ENSP00000358866.3:p.Arg2643Cys | |
| ENST00000369856.7:c.7846C>T | ENSP00000358872.4:p.Arg2616Cys | |
| ENST00000420627.5:c.7883C>T | ENSP00000408921.1:n.7883C>T | |
| ENST00000422373.5:c.7903C>T | ENSP00000416926.1:p.Arg2635Cys | |
| ENST00000490936.5:n.5156C>T | ||
| ENST00000498411.1:n.68-36C>T | ||
| ENST00000610817.4:c.6931C>T | ENSP00000480593.1:p.Arg2311Cys | |
| NM_001110556.1:c.7927C>T | NP_001104026.1:p.Arg2643Cys | |
| NM_001456.3:c.7903C>T | NP_001447.2:p.Arg2635Cys | |
| XM_011531127.1:c.7831C>T | XP_011529429.1:p.Arg2611Cys | |
| XM_011531128.1:c.7807C>T | XP_011529430.1:p.Arg2603Cys | |
| XM_011531129.1:c.7753C>T | XP_011529431.1:p.Arg2585Cys | |
| XM_011531130.1:c.7729C>T | XP_011529432.1:p.Arg2577Cys | |
| XM_011531131.1:c.7726C>T | XP_011529433.1:p.Arg2576Cys | |
| NM_001110556.2:c.7927C>T MANE Select | NP_001104026.1:p.Arg2643Cys | |
| NM_001456.4:c.7903C>T | NP_001447.2:p.Arg2635Cys |