Linked Data
ClinVar Variation Id:
450612
ClinVar RCV Id:
RCV002525178
dbSNP Id:
rs866539724
gnomAD v2:
13-23949319-C-T
gnomAD v3:
13-23375180-C-T
gnomAD v4:
13-23375180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23375180C>T , CM000675.2:g.23375180C>T | GRCh38 |
| NC_000013.10:g.23949319C>T , CM000675.1:g.23949319C>T | GRCh37 |
| NC_000013.9:g.22847319C>T | NCBI36 |
| NG_012342.1:g.63523G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682244.1:n.683G>A | ||
| ENST00000682547.1:c.147G>A | ENSP00000507735.1:p.Thr49= | |
| ENST00000682775.1:c.110G>A | ENSP00000508399.1:p.Arg37His | |
| ENST00000682944.1:c.110G>A | ENSP00000507173.1:p.Arg37His | |
| ENST00000683154.1:n.248G>A | ||
| ENST00000683210.1:c.110G>A | ENSP00000506739.1:p.Arg37His | |
| ENST00000683270.1:c.101G>A | ENSP00000507624.1:p.Arg34His | |
| ENST00000683367.1:c.101G>A | ENSP00000507780.1:p.Arg34His | |
| ENST00000683489.1:c.110G>A | ENSP00000508403.1:p.Arg37His | |
| ENST00000683680.1:c.110G>A | ENSP00000507223.1:p.Arg37His | |
| ENST00000684053.1:n.227G>A | ||
| ENST00000684163.1:c.101G>A | ENSP00000508262.1:p.Arg34His | |
| ENST00000684325.1:c.110G>A | ENSP00000508121.1:p.Arg37His | |
| ENST00000684385.1:c.110G>A | ENSP00000507855.1:p.Arg37His | |
| ENST00000684497.1:c.110G>A | ENSP00000507057.1:p.Arg37His | |
| ENST00000382292.9:c.110G>A MANE Select | ENSP00000371729.3:p.Arg37His | |
| ENST00000423156.2:c.110G>A | ENSP00000390925.2:p.Arg37His | |
| ENST00000455470.6:c.110G>A | ENSP00000406565.2:p.Arg37His | |
| ENST00000382292.7:c.110G>A | ENSP00000371729.3:p.Arg37His | |
| ENST00000382298.7:c.110G>A | ENSP00000371735.3:p.Arg37His | |
| ENST00000402364.1:c.-2053G>A | ENSP00000385844.1:n.-2053G>A | |
| NM_001278055.1:c.-244G>A | NP_001264984.1:n.-244G>A | |
| NM_014363.5:c.110G>A | NP_055178.3:p.Arg37His | |
| XM_005266338.1:c.110G>A | XP_005266395.1:p.Arg37His | |
| XM_011535038.1:c.134G>A | XP_011533340.1:p.Arg45His | |
| XM_011535039.1:c.101G>A | XP_011533341.1:p.Arg34His | |
| XM_005266338.2:c.110G>A | XP_005266395.1:p.Arg37His | |
| XM_011535039.2:c.101G>A | XP_011533341.1:p.Arg34His | |
| XM_017020539.1:c.101G>A | XP_016876028.1:p.Arg34His | |
| XM_024449337.1:c.110G>A | XP_024305105.1:p.Arg37His | |
| NM_014363.6:c.110G>A MANE Select | NP_055178.3:p.Arg37His | |
| NM_001278055.2:c.-244G>A | NP_001264984.1:n.-244G>A |