Linked Data
ClinVar Variation Id:
2076854
ClinVar RCV Id:
RCV002985226
dbSNP Id:
rs751713432
ExAC:
13:23910867 C / T
gnomAD v2:
13-23910867-C-T
gnomAD v3:
13-23336728-C-T
gnomAD v4:
13-23336728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336728C>T , CM000675.2:g.23336728C>T | GRCh38 |
| NC_000013.10:g.23910867C>T , CM000675.1:g.23910867C>T | GRCh37 |
| NC_000013.9:g.22808867C>T | NCBI36 |
| NG_012342.1:g.101975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17057G>A | ENSP00000508399.1:n.2185+17057G>A | |
| ENST00000682944.1:c.7175G>A | ENSP00000507173.1:p.Arg2392His | |
| ENST00000683210.1:c.2185+17057G>A | ENSP00000506739.1:n.2185+17057G>A | |
| ENST00000683270.1:c.6445+694G>A | ENSP00000507624.1:n.6445+694G>A | |
| ENST00000683367.1:c.2177-7244G>A | ENSP00000507780.1:n.2177-7244G>A | |
| ENST00000683489.1:c.2291+4857G>A | ENSP00000508403.1:n.2291+4857G>A | |
| ENST00000683680.1:c.2318+4857G>A | ENSP00000507223.1:n.2318+4857G>A | |
| ENST00000684163.1:c.2204-7244G>A | ENSP00000508262.1:n.2204-7244G>A | |
| ENST00000684196.1:n.4543-7244G>A | ||
| ENST00000684325.1:c.2186-15054G>A | ENSP00000508121.1:n.2186-15054G>A | |
| ENST00000684385.1:c.2221-7244G>A | ENSP00000507855.1:n.2221-7244G>A | |
| ENST00000684497.1:c.2186-14084G>A | ENSP00000507057.1:n.2186-14084G>A | |
| ENST00000382292.9:c.7148G>A MANE Select | ENSP00000371729.3:p.Arg2383His | |
| ENST00000423156.2:c.2186-7244G>A | ENSP00000390925.2:n.2186-7244G>A | |
| ENST00000455470.6:c.2431+4717G>A | ENSP00000406565.2:n.2431+4717G>A | |
| ENST00000382292.7:c.7148G>A | ENSP00000371729.3:p.Arg2383His | |
| ENST00000382298.7:c.7148G>A | ENSP00000371735.3:p.Arg2383His | |
| ENST00000402364.1:c.4898G>A | ENSP00000385844.1:p.Arg1633His | |
| ENST00000423156.1:c.1058-7244G>A | ENSP00000390925.1:n.1058-7244G>A | |
| ENST00000455470.5:c.2129+4717G>A | ||
| NM_001278055.1:c.6707G>A | NP_001264984.1:p.Arg2236His | |
| NM_014363.5:c.7148G>A | NP_055178.3:p.Arg2383His | |
| XM_005266338.1:c.7175G>A | XP_005266395.1:p.Arg2392His | |
| XM_011535038.1:c.7199G>A | XP_011533340.1:p.Arg2400His | |
| XM_011535039.1:c.7166G>A | XP_011533341.1:p.Arg2389His | |
| XM_005266338.2:c.7175G>A | XP_005266395.1:p.Arg2392His | |
| XM_011535039.2:c.7166G>A | XP_011533341.1:p.Arg2389His | |
| XM_017020539.1:c.7139G>A | XP_016876028.1:p.Arg2380His | |
| XM_024449337.1:c.7175G>A | XP_024305105.1:p.Arg2392His | |
| NM_014363.6:c.7148G>A MANE Select | NP_055178.3:p.Arg2383His | |
| NM_001278055.2:c.6707G>A | NP_001264984.1:p.Arg2236His |