Linked Data
ClinVar Variation Id:
1003760
dbSNP Id:
rs764516788
ExAC:
13:23911519 G / A
gnomAD v2:
13-23911519-G-A
gnomAD v3:
13-23337380-G-A
gnomAD v4:
13-23337380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337380G>A , CM000675.2:g.23337380G>A | GRCh38 |
| NC_000013.10:g.23911519G>A , CM000675.1:g.23911519G>A | GRCh37 |
| NC_000013.9:g.22809519G>A | NCBI36 |
| NG_012342.1:g.101323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+16405C>T | ENSP00000508399.1:n.2185+16405C>T | |
| ENST00000682944.1:c.6523C>T | ENSP00000507173.1:p.Arg2175Cys | |
| ENST00000683210.1:c.2185+16405C>T | ENSP00000506739.1:n.2185+16405C>T | |
| ENST00000683270.1:c.6445+42C>T | ENSP00000507624.1:n.6445+42C>T | |
| ENST00000683367.1:c.2177-7896C>T | ENSP00000507780.1:n.2177-7896C>T | |
| ENST00000683489.1:c.2291+4205C>T | ENSP00000508403.1:n.2291+4205C>T | |
| ENST00000683680.1:c.2318+4205C>T | ENSP00000507223.1:n.2318+4205C>T | |
| ENST00000684163.1:c.2204-7896C>T | ENSP00000508262.1:n.2204-7896C>T | |
| ENST00000684196.1:n.4543-7896C>T | ||
| ENST00000684325.1:c.2186-15706C>T | ENSP00000508121.1:n.2186-15706C>T | |
| ENST00000684385.1:c.2221-7896C>T | ENSP00000507855.1:n.2221-7896C>T | |
| ENST00000684497.1:c.2186-14736C>T | ENSP00000507057.1:n.2186-14736C>T | |
| ENST00000382292.9:c.6496C>T MANE Select | ENSP00000371729.3:p.Arg2166Cys | |
| ENST00000423156.2:c.2186-7896C>T | ENSP00000390925.2:n.2186-7896C>T | |
| ENST00000455470.6:c.2431+4065C>T | ENSP00000406565.2:n.2431+4065C>T | |
| ENST00000382292.7:c.6496C>T | ENSP00000371729.3:p.Arg2166Cys | |
| ENST00000382298.7:c.6496C>T | ENSP00000371735.3:p.Arg2166Cys | |
| ENST00000402364.1:c.4246C>T | ENSP00000385844.1:p.Arg1416Cys | |
| ENST00000423156.1:c.1058-7896C>T | ENSP00000390925.1:n.1058-7896C>T | |
| ENST00000455470.5:c.2129+4065C>T | ||
| NM_001278055.1:c.6055C>T | NP_001264984.1:p.Arg2019Cys | |
| NM_014363.5:c.6496C>T | NP_055178.3:p.Arg2166Cys | |
| XM_005266338.1:c.6523C>T | XP_005266395.1:p.Arg2175Cys | |
| XM_011535038.1:c.6547C>T | XP_011533340.1:p.Arg2183Cys | |
| XM_011535039.1:c.6514C>T | XP_011533341.1:p.Arg2172Cys | |
| XM_005266338.2:c.6523C>T | XP_005266395.1:p.Arg2175Cys | |
| XM_011535039.2:c.6514C>T | XP_011533341.1:p.Arg2172Cys | |
| XM_017020539.1:c.6487C>T | XP_016876028.1:p.Arg2163Cys | |
| XM_024449337.1:c.6523C>T | XP_024305105.1:p.Arg2175Cys | |
| NM_014363.6:c.6496C>T MANE Select | NP_055178.3:p.Arg2166Cys | |
| NM_001278055.2:c.6055C>T | NP_001264984.1:p.Arg2019Cys |