Linked Data
ClinVar Variation Id:
242492
dbSNP Id:
rs863224916
gnomAD v3:
13-23332252-C-T
gnomAD v4:
13-23332252-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23332252C>T , CM000675.2:g.23332252C>T | GRCh38 |
| NC_000013.10:g.23906391C>T , CM000675.1:g.23906391C>T | GRCh37 |
| NC_000013.9:g.22804391C>T | NCBI36 |
| NG_012342.1:g.106451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-20137G>A | ENSP00000508399.1:n.2186-20137G>A | |
| ENST00000682944.1:c.11651G>A | ENSP00000507173.1:p.Arg3884His | |
| ENST00000683210.1:c.2185+21533G>A | ENSP00000506739.1:n.2185+21533G>A | |
| ENST00000683270.1:c.6446-2768G>A | ENSP00000507624.1:n.6446-2768G>A | |
| ENST00000683367.1:c.2177-2768G>A | ENSP00000507780.1:n.2177-2768G>A | |
| ENST00000683489.1:c.2292-2300G>A | ENSP00000508403.1:n.2292-2300G>A | |
| ENST00000683680.1:c.2319-2300G>A | ENSP00000507223.1:n.2319-2300G>A | |
| ENST00000684163.1:c.2204-2768G>A | ENSP00000508262.1:n.2204-2768G>A | |
| ENST00000684196.1:n.4543-2768G>A | ||
| ENST00000684325.1:c.2186-10578G>A | ENSP00000508121.1:n.2186-10578G>A | |
| ENST00000684385.1:c.2221-2768G>A | ENSP00000507855.1:n.2221-2768G>A | |
| ENST00000684497.1:c.2186-9608G>A | ENSP00000507057.1:n.2186-9608G>A | |
| ENST00000382292.9:c.11624G>A MANE Select | ENSP00000371729.3:p.Arg3875His | |
| ENST00000423156.2:c.2186-2768G>A | ENSP00000390925.2:n.2186-2768G>A | |
| ENST00000455470.6:c.2432-2768G>A | ENSP00000406565.2:n.2432-2768G>A | |
| ENST00000382292.7:c.11624G>A | ENSP00000371729.3:p.Arg3875His | |
| ENST00000382298.7:c.11624G>A | ENSP00000371735.3:p.Arg3875His | |
| ENST00000402364.1:c.9374G>A | ENSP00000385844.1:p.Arg3125His | |
| ENST00000423156.1:c.1058-2768G>A | ENSP00000390925.1:n.1058-2768G>A | |
| ENST00000455470.5:c.2130-2768G>A | ||
| NM_001278055.1:c.11183G>A | NP_001264984.1:p.Arg3728His | |
| NM_014363.5:c.11624G>A | NP_055178.3:p.Arg3875His | |
| XM_005266338.1:c.11651G>A | XP_005266395.1:p.Arg3884His | |
| XM_011535038.1:c.11675G>A | XP_011533340.1:p.Arg3892His | |
| XM_011535039.1:c.11642G>A | XP_011533341.1:p.Arg3881His | |
| XM_005266338.2:c.11651G>A | XP_005266395.1:p.Arg3884His | |
| XM_011535039.2:c.11642G>A | XP_011533341.1:p.Arg3881His | |
| XM_017020539.1:c.11615G>A | XP_016876028.1:p.Arg3872His | |
| XM_024449337.1:c.11651G>A | XP_024305105.1:p.Arg3884His | |
| NM_014363.6:c.11624G>A MANE Select | NP_055178.3:p.Arg3875His | |
| NM_001278055.2:c.11183G>A | NP_001264984.1:p.Arg3728His |