Linked Data
dbSNP Id:
rs1305578930
gnomAD v2:
13-23911738-G-A
gnomAD v3:
13-23337599-G-A
gnomAD v4:
13-23337599-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337599G>A , CM000675.2:g.23337599G>A | GRCh38 |
| NC_000013.10:g.23911738G>A , CM000675.1:g.23911738G>A | GRCh37 |
| NC_000013.9:g.22809738G>A | NCBI36 |
| NG_012342.1:g.101104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+16186C>T | ENSP00000508399.1:n.2185+16186C>T | |
| ENST00000682944.1:c.6304C>T | ENSP00000507173.1:p.Arg2102Cys | |
| ENST00000683210.1:c.2185+16186C>T | ENSP00000506739.1:n.2185+16186C>T | |
| ENST00000683270.1:c.6268C>T | ENSP00000507624.1:p.Arg2090Cys | |
| ENST00000683367.1:c.2177-8115C>T | ENSP00000507780.1:n.2177-8115C>T | |
| ENST00000683489.1:c.2291+3986C>T | ENSP00000508403.1:n.2291+3986C>T | |
| ENST00000683680.1:c.2318+3986C>T | ENSP00000507223.1:n.2318+3986C>T | |
| ENST00000684163.1:c.2204-8115C>T | ENSP00000508262.1:n.2204-8115C>T | |
| ENST00000684196.1:n.4543-8115C>T | ||
| ENST00000684325.1:c.2186-15925C>T | ENSP00000508121.1:n.2186-15925C>T | |
| ENST00000684385.1:c.2221-8115C>T | ENSP00000507855.1:n.2221-8115C>T | |
| ENST00000684497.1:c.2186-14955C>T | ENSP00000507057.1:n.2186-14955C>T | |
| ENST00000382292.9:c.6277C>T MANE Select | ENSP00000371729.3:p.Arg2093Cys | |
| ENST00000423156.2:c.2186-8115C>T | ENSP00000390925.2:n.2186-8115C>T | |
| ENST00000455470.6:c.2431+3846C>T | ENSP00000406565.2:n.2431+3846C>T | |
| ENST00000382292.7:c.6277C>T | ENSP00000371729.3:p.Arg2093Cys | |
| ENST00000382298.7:c.6277C>T | ENSP00000371735.3:p.Arg2093Cys | |
| ENST00000402364.1:c.4027C>T | ENSP00000385844.1:p.Arg1343Cys | |
| ENST00000423156.1:c.1058-8115C>T | ENSP00000390925.1:n.1058-8115C>T | |
| ENST00000455470.5:c.2129+3846C>T | ||
| NM_001278055.1:c.5836C>T | NP_001264984.1:p.Arg1946Cys | |
| NM_014363.5:c.6277C>T | NP_055178.3:p.Arg2093Cys | |
| XM_005266338.1:c.6304C>T | XP_005266395.1:p.Arg2102Cys | |
| XM_011535038.1:c.6328C>T | XP_011533340.1:p.Arg2110Cys | |
| XM_011535039.1:c.6295C>T | XP_011533341.1:p.Arg2099Cys | |
| XM_005266338.2:c.6304C>T | XP_005266395.1:p.Arg2102Cys | |
| XM_011535039.2:c.6295C>T | XP_011533341.1:p.Arg2099Cys | |
| XM_017020539.1:c.6268C>T | XP_016876028.1:p.Arg2090Cys | |
| XM_024449337.1:c.6304C>T | XP_024305105.1:p.Arg2102Cys | |
| NM_014363.6:c.6277C>T MANE Select | NP_055178.3:p.Arg2093Cys | |
| NM_001278055.2:c.5836C>T | NP_001264984.1:p.Arg1946Cys |