Linked Data
ClinVar Variation Id:
197460
dbSNP Id:
rs781878646
ExAC:
X:153579959 G / C
gnomAD v2:
X-153579959-G-C
gnomAD v3:
X-154351591-G-C
gnomAD v4:
X-154351591-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351591G>C , CM000685.2:g.154351591G>C | GRCh38 |
| NC_000023.10:g.153579959G>C , CM000685.1:g.153579959G>C | GRCh37 |
| NC_000023.9:g.153233153G>C | NCBI36 |
| NG_011506.1:g.28048C>G | |
| NG_011506.2:g.28048C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6989C>G | ENSP00000353467.4:p.Ser2330Cys | |
| ENST00000369850.10:c.7013C>G MANE Select | ENSP00000358866.3:p.Ser2338Cys | |
| ENST00000369856.8:c.6932C>G | ENSP00000358872.4:p.Ser2311Cys | |
| ENST00000422373.6:c.3794C>G | ENSP00000416926.2:p.Ser1265Cys | |
| ENST00000610817.5:c.7070C>G | ENSP00000480593.2:n.7070C>G | |
| ENST00000673639.2:c.280-2901C>G | ||
| ENST00000676696.1:c.7292C>G | ENSP00000503392.1:n.7292C>G | |
| ENST00000678304.1:n.2192C>G | ||
| ENST00000344736.8:c.6893C>G | ENSP00000358863.3:p.Ser2298Cys | |
| ENST00000360319.8:c.6989C>G | ENSP00000353467.4:p.Ser2330Cys | |
| ENST00000369850.7:c.7013C>G | ENSP00000358866.3:p.Ser2338Cys | |
| ENST00000369856.7:c.6932C>G | ENSP00000358872.4:p.Ser2311Cys | |
| ENST00000420627.5:c.6969C>G | ENSP00000408921.1:n.6969C>G | |
| ENST00000422373.5:c.6989C>G | ENSP00000416926.1:p.Ser2330Cys | |
| ENST00000444578.1:c.833C>G | ENSP00000397824.1:p.Ser278Cys | |
| ENST00000490936.5:n.3002C>G | ||
| ENST00000498411.1:n.67+1226C>G | ||
| ENST00000610817.4:c.6017C>G | ENSP00000480593.1:p.Ser2006Cys | |
| NM_001110556.1:c.7013C>G | NP_001104026.1:p.Ser2338Cys | |
| NM_001456.3:c.6989C>G | NP_001447.2:p.Ser2330Cys | |
| XM_011531127.1:c.6917C>G | XP_011529429.1:p.Ser2306Cys | |
| XM_011531128.1:c.6893C>G | XP_011529430.1:p.Ser2298Cys | |
| XM_011531129.1:c.6839C>G | XP_011529431.1:p.Ser2280Cys | |
| XM_011531130.1:c.6815C>G | XP_011529432.1:p.Ser2272Cys | |
| XM_011531131.1:c.6812C>G | XP_011529433.1:p.Ser2271Cys | |
| NM_001110556.2:c.7013C>G MANE Select | NP_001104026.1:p.Ser2338Cys | |
| NM_001456.4:c.6989C>G | NP_001447.2:p.Ser2330Cys |