Linked Data
ClinVar Variation Id:
197062
dbSNP Id:
rs200524526
ExAC:
X:153581011 C / A
gnomAD v2:
X-153581011-C-A
gnomAD v3:
X-154352643-C-A
gnomAD v4:
X-154352643-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352643C>A , CM000685.2:g.154352643C>A | GRCh38 |
| NC_000023.10:g.153581011C>A , CM000685.1:g.153581011C>A | GRCh37 |
| NC_000023.9:g.153234205C>A | NCBI36 |
| NG_011506.1:g.26996G>T | |
| NG_011506.2:g.26996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6388G>T | ENSP00000353467.4:p.Gly2130Cys | |
| ENST00000369850.10:c.6412G>T MANE Select | ENSP00000358866.3:p.Gly2138Cys | |
| ENST00000369856.8:c.6331G>T | ENSP00000358872.4:p.Gly2111Cys | |
| ENST00000422373.6:c.3193G>T | ENSP00000416926.2:p.Gly1065Cys | |
| ENST00000610817.5:c.6469G>T | ENSP00000480593.2:n.6469G>T | |
| ENST00000673639.2:c.280-3953G>T | ||
| ENST00000676696.1:c.6691G>T | ENSP00000503392.1:n.6691G>T | |
| ENST00000678304.1:n.1591G>T | ||
| ENST00000344736.8:c.6292G>T | ENSP00000358863.3:p.Gly2098Cys | |
| ENST00000360319.8:c.6388G>T | ENSP00000353467.4:p.Gly2130Cys | |
| ENST00000369850.7:c.6412G>T | ENSP00000358866.3:p.Gly2138Cys | |
| ENST00000369856.7:c.6331G>T | ENSP00000358872.4:p.Gly2111Cys | |
| ENST00000415241.1:c.614G>T | ||
| ENST00000420627.5:c.6368G>T | ENSP00000408921.1:n.6368G>T | |
| ENST00000422373.5:c.6388G>T | ENSP00000416926.1:p.Gly2130Cys | |
| ENST00000444578.1:c.322+129G>T | ENSP00000397824.1:n.322+129G>T | |
| ENST00000466325.1:n.723G>T | ||
| ENST00000474358.5:n.45G>T | ||
| ENST00000490936.5:n.2401G>T | ||
| ENST00000498411.1:n.67+174G>T | ||
| ENST00000610817.4:c.5845-693G>T | ENSP00000480593.1:n.5845-693G>T | |
| NM_001110556.1:c.6412G>T | NP_001104026.1:p.Gly2138Cys | |
| NM_001456.3:c.6388G>T | NP_001447.2:p.Gly2130Cys | |
| XM_011531127.1:c.6316G>T | XP_011529429.1:p.Gly2106Cys | |
| XM_011531128.1:c.6292G>T | XP_011529430.1:p.Gly2098Cys | |
| XM_011531129.1:c.6238G>T | XP_011529431.1:p.Gly2080Cys | |
| XM_011531130.1:c.6214G>T | XP_011529432.1:p.Gly2072Cys | |
| XM_011531131.1:c.6211G>T | XP_011529433.1:p.Gly2071Cys | |
| NM_001110556.2:c.6412G>T MANE Select | NP_001104026.1:p.Gly2138Cys | |
| NM_001456.4:c.6388G>T | NP_001447.2:p.Gly2130Cys |