Linked Data
ClinVar Variation Id:
884137
ClinVar RCV Id:
RCV001115053
dbSNP Id:
rs1420170258
gnomAD v2:
13-23910561-T-A
gnomAD v3:
13-23336422-T-A
gnomAD v4:
13-23336422-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336422T>A , CM000675.2:g.23336422T>A | GRCh38 |
| NC_000013.10:g.23910561T>A , CM000675.1:g.23910561T>A | GRCh37 |
| NC_000013.9:g.22808561T>A | NCBI36 |
| NG_012342.1:g.102281A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17363A>T | ENSP00000508399.1:n.2185+17363A>T | |
| ENST00000682944.1:c.7481A>T | ENSP00000507173.1:p.His2494Leu | |
| ENST00000683210.1:c.2185+17363A>T | ENSP00000506739.1:n.2185+17363A>T | |
| ENST00000683270.1:c.6445+1000A>T | ENSP00000507624.1:n.6445+1000A>T | |
| ENST00000683367.1:c.2177-6938A>T | ENSP00000507780.1:n.2177-6938A>T | |
| ENST00000683489.1:c.2291+5163A>T | ENSP00000508403.1:n.2291+5163A>T | |
| ENST00000683680.1:c.2318+5163A>T | ENSP00000507223.1:n.2318+5163A>T | |
| ENST00000684163.1:c.2204-6938A>T | ENSP00000508262.1:n.2204-6938A>T | |
| ENST00000684196.1:n.4543-6938A>T | ||
| ENST00000684325.1:c.2186-14748A>T | ENSP00000508121.1:n.2186-14748A>T | |
| ENST00000684385.1:c.2221-6938A>T | ENSP00000507855.1:n.2221-6938A>T | |
| ENST00000684497.1:c.2186-13778A>T | ENSP00000507057.1:n.2186-13778A>T | |
| ENST00000382292.9:c.7454A>T MANE Select | ENSP00000371729.3:p.His2485Leu | |
| ENST00000423156.2:c.2186-6938A>T | ENSP00000390925.2:n.2186-6938A>T | |
| ENST00000455470.6:c.2431+5023A>T | ENSP00000406565.2:n.2431+5023A>T | |
| ENST00000382292.7:c.7454A>T | ENSP00000371729.3:p.His2485Leu | |
| ENST00000382298.7:c.7454A>T | ENSP00000371735.3:p.His2485Leu | |
| ENST00000402364.1:c.5204A>T | ENSP00000385844.1:p.His1735Leu | |
| ENST00000423156.1:c.1058-6938A>T | ENSP00000390925.1:n.1058-6938A>T | |
| ENST00000455470.5:c.2129+5023A>T | ||
| NM_001278055.1:c.7013A>T | NP_001264984.1:p.His2338Leu | |
| NM_014363.5:c.7454A>T | NP_055178.3:p.His2485Leu | |
| XM_005266338.1:c.7481A>T | XP_005266395.1:p.His2494Leu | |
| XM_011535038.1:c.7505A>T | XP_011533340.1:p.His2502Leu | |
| XM_011535039.1:c.7472A>T | XP_011533341.1:p.His2491Leu | |
| XM_005266338.2:c.7481A>T | XP_005266395.1:p.His2494Leu | |
| XM_011535039.2:c.7472A>T | XP_011533341.1:p.His2491Leu | |
| XM_017020539.1:c.7445A>T | XP_016876028.1:p.His2482Leu | |
| XM_024449337.1:c.7481A>T | XP_024305105.1:p.His2494Leu | |
| NM_014363.6:c.7454A>T MANE Select | NP_055178.3:p.His2485Leu | |
| NM_001278055.2:c.7013A>T | NP_001264984.1:p.His2338Leu |