Linked Data
ClinVar Variation Id:
197459
dbSNP Id:
rs781984348
ExAC:
X:153579975 G / A
gnomAD v2:
X-153579975-G-A
gnomAD v3:
X-154351607-G-A
gnomAD v4:
X-154351607-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351607G>A , CM000685.2:g.154351607G>A | GRCh38 |
| NC_000023.10:g.153579975G>A , CM000685.1:g.153579975G>A | GRCh37 |
| NC_000023.9:g.153233169G>A | NCBI36 |
| NG_011506.1:g.28032C>T | |
| NG_011506.2:g.28032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6973C>T | ENSP00000353467.4:p.Arg2325Cys | |
| ENST00000369850.10:c.6997C>T MANE Select | ENSP00000358866.3:p.Arg2333Cys | |
| ENST00000369856.8:c.6916C>T | ENSP00000358872.4:p.Arg2306Cys | |
| ENST00000422373.6:c.3778C>T | ENSP00000416926.2:p.Arg1260Cys | |
| ENST00000610817.5:c.7054C>T | ENSP00000480593.2:n.7054C>T | |
| ENST00000673639.2:c.280-2917C>T | ||
| ENST00000676696.1:c.7276C>T | ENSP00000503392.1:n.7276C>T | |
| ENST00000678304.1:n.2176C>T | ||
| ENST00000344736.8:c.6877C>T | ENSP00000358863.3:p.Arg2293Cys | |
| ENST00000360319.8:c.6973C>T | ENSP00000353467.4:p.Arg2325Cys | |
| ENST00000369850.7:c.6997C>T | ENSP00000358866.3:p.Arg2333Cys | |
| ENST00000369856.7:c.6916C>T | ENSP00000358872.4:p.Arg2306Cys | |
| ENST00000420627.5:c.6953C>T | ENSP00000408921.1:n.6953C>T | |
| ENST00000422373.5:c.6973C>T | ENSP00000416926.1:p.Arg2325Cys | |
| ENST00000444578.1:c.817C>T | ENSP00000397824.1:p.Arg273Cys | |
| ENST00000490936.5:n.2986C>T | ||
| ENST00000498411.1:n.67+1210C>T | ||
| ENST00000610817.4:c.6001C>T | ENSP00000480593.1:p.Arg2001Cys | |
| NM_001110556.1:c.6997C>T | NP_001104026.1:p.Arg2333Cys | |
| NM_001456.3:c.6973C>T | NP_001447.2:p.Arg2325Cys | |
| XM_011531127.1:c.6901C>T | XP_011529429.1:p.Arg2301Cys | |
| XM_011531128.1:c.6877C>T | XP_011529430.1:p.Arg2293Cys | |
| XM_011531129.1:c.6823C>T | XP_011529431.1:p.Arg2275Cys | |
| XM_011531130.1:c.6799C>T | XP_011529432.1:p.Arg2267Cys | |
| XM_011531131.1:c.6796C>T | XP_011529433.1:p.Arg2266Cys | |
| NM_001110556.2:c.6997C>T MANE Select | NP_001104026.1:p.Arg2333Cys | |
| NM_001456.4:c.6973C>T | NP_001447.2:p.Arg2325Cys |