Linked Data
ClinVar Variation Id:
1409237
ClinVar RCV Id:
RCV001913536
dbSNP Id:
rs553929593
ExAC:
13:23908872 C / T
gnomAD v2:
13-23908872-C-T
gnomAD v4:
13-23334733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334733C>T , CM000675.2:g.23334733C>T | GRCh38 |
| NC_000013.10:g.23908872C>T , CM000675.1:g.23908872C>T | GRCh37 |
| NC_000013.9:g.22806872C>T | NCBI36 |
| NG_012342.1:g.103970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19052G>A | ENSP00000508399.1:n.2185+19052G>A | |
| ENST00000682944.1:c.9170G>A | ENSP00000507173.1:p.Arg3057His | |
| ENST00000683210.1:c.2185+19052G>A | ENSP00000506739.1:n.2185+19052G>A | |
| ENST00000683270.1:c.6445+2689G>A | ENSP00000507624.1:n.6445+2689G>A | |
| ENST00000683367.1:c.2177-5249G>A | ENSP00000507780.1:n.2177-5249G>A | |
| ENST00000683489.1:c.2292-4781G>A | ENSP00000508403.1:n.2292-4781G>A | |
| ENST00000683680.1:c.2319-4781G>A | ENSP00000507223.1:n.2319-4781G>A | |
| ENST00000684163.1:c.2204-5249G>A | ENSP00000508262.1:n.2204-5249G>A | |
| ENST00000684196.1:n.4543-5249G>A | ||
| ENST00000684325.1:c.2186-13059G>A | ENSP00000508121.1:n.2186-13059G>A | |
| ENST00000684385.1:c.2221-5249G>A | ENSP00000507855.1:n.2221-5249G>A | |
| ENST00000684497.1:c.2186-12089G>A | ENSP00000507057.1:n.2186-12089G>A | |
| ENST00000382292.9:c.9143G>A MANE Select | ENSP00000371729.3:p.Arg3048His | |
| ENST00000423156.2:c.2186-5249G>A | ENSP00000390925.2:n.2186-5249G>A | |
| ENST00000455470.6:c.2432-5249G>A | ENSP00000406565.2:n.2432-5249G>A | |
| ENST00000382292.7:c.9143G>A | ENSP00000371729.3:p.Arg3048His | |
| ENST00000382298.7:c.9143G>A | ENSP00000371735.3:p.Arg3048His | |
| ENST00000402364.1:c.6893G>A | ENSP00000385844.1:p.Arg2298His | |
| ENST00000423156.1:c.1058-5249G>A | ENSP00000390925.1:n.1058-5249G>A | |
| ENST00000455470.5:c.2130-5249G>A | ||
| NM_001278055.1:c.8702G>A | NP_001264984.1:p.Arg2901His | |
| NM_014363.5:c.9143G>A | NP_055178.3:p.Arg3048His | |
| XM_005266338.1:c.9170G>A | XP_005266395.1:p.Arg3057His | |
| XM_011535038.1:c.9194G>A | XP_011533340.1:p.Arg3065His | |
| XM_011535039.1:c.9161G>A | XP_011533341.1:p.Arg3054His | |
| XM_005266338.2:c.9170G>A | XP_005266395.1:p.Arg3057His | |
| XM_011535039.2:c.9161G>A | XP_011533341.1:p.Arg3054His | |
| XM_017020539.1:c.9134G>A | XP_016876028.1:p.Arg3045His | |
| XM_024449337.1:c.9170G>A | XP_024305105.1:p.Arg3057His | |
| NM_014363.6:c.9143G>A MANE Select | NP_055178.3:p.Arg3048His | |
| NM_001278055.2:c.8702G>A | NP_001264984.1:p.Arg2901His |