Linked Data
ClinVar Variation Id:
448227
dbSNP Id:
rs192610957
ExAC:
13:23909043 C / T
gnomAD v2:
13-23909043-C-T
gnomAD v3:
13-23334904-C-T
gnomAD v4:
13-23334904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334904C>T , CM000675.2:g.23334904C>T | GRCh38 |
| NC_000013.10:g.23909043C>T , CM000675.1:g.23909043C>T | GRCh37 |
| NC_000013.9:g.22807043C>T | NCBI36 |
| NG_012342.1:g.103799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+18881G>A | ENSP00000508399.1:n.2185+18881G>A | |
| ENST00000682944.1:c.8999G>A | ENSP00000507173.1:p.Arg3000His | |
| ENST00000683210.1:c.2185+18881G>A | ENSP00000506739.1:n.2185+18881G>A | |
| ENST00000683270.1:c.6445+2518G>A | ENSP00000507624.1:n.6445+2518G>A | |
| ENST00000683367.1:c.2177-5420G>A | ENSP00000507780.1:n.2177-5420G>A | |
| ENST00000683489.1:c.2292-4952G>A | ENSP00000508403.1:n.2292-4952G>A | |
| ENST00000683680.1:c.2319-4952G>A | ENSP00000507223.1:n.2319-4952G>A | |
| ENST00000684163.1:c.2204-5420G>A | ENSP00000508262.1:n.2204-5420G>A | |
| ENST00000684196.1:n.4543-5420G>A | ||
| ENST00000684325.1:c.2186-13230G>A | ENSP00000508121.1:n.2186-13230G>A | |
| ENST00000684385.1:c.2221-5420G>A | ENSP00000507855.1:n.2221-5420G>A | |
| ENST00000684497.1:c.2186-12260G>A | ENSP00000507057.1:n.2186-12260G>A | |
| ENST00000382292.9:c.8972G>A MANE Select | ENSP00000371729.3:p.Arg2991His | |
| ENST00000423156.2:c.2186-5420G>A | ENSP00000390925.2:n.2186-5420G>A | |
| ENST00000455470.6:c.2432-5420G>A | ENSP00000406565.2:n.2432-5420G>A | |
| ENST00000382292.7:c.8972G>A | ENSP00000371729.3:p.Arg2991His | |
| ENST00000382298.7:c.8972G>A | ENSP00000371735.3:p.Arg2991His | |
| ENST00000402364.1:c.6722G>A | ENSP00000385844.1:p.Arg2241His | |
| ENST00000423156.1:c.1058-5420G>A | ENSP00000390925.1:n.1058-5420G>A | |
| ENST00000455470.5:c.2130-5420G>A | ||
| NM_001278055.1:c.8531G>A | NP_001264984.1:p.Arg2844His | |
| NM_014363.5:c.8972G>A | NP_055178.3:p.Arg2991His | |
| XM_005266338.1:c.8999G>A | XP_005266395.1:p.Arg3000His | |
| XM_011535038.1:c.9023G>A | XP_011533340.1:p.Arg3008His | |
| XM_011535039.1:c.8990G>A | XP_011533341.1:p.Arg2997His | |
| XM_005266338.2:c.8999G>A | XP_005266395.1:p.Arg3000His | |
| XM_011535039.2:c.8990G>A | XP_011533341.1:p.Arg2997His | |
| XM_017020539.1:c.8963G>A | XP_016876028.1:p.Arg2988His | |
| XM_024449337.1:c.8999G>A | XP_024305105.1:p.Arg3000His | |
| NM_014363.6:c.8972G>A MANE Select | NP_055178.3:p.Arg2991His | |
| NM_001278055.2:c.8531G>A | NP_001264984.1:p.Arg2844His |