Linked Data
ClinVar Variation Id:
311555
dbSNP Id:
rs143433500
ExAC:
13:23915518 C / T
gnomAD v2:
13-23915518-C-T
gnomAD v3:
13-23341379-C-T
gnomAD v4:
13-23341379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341379C>T , CM000675.2:g.23341379C>T | GRCh38 |
| NC_000013.10:g.23915518C>T , CM000675.1:g.23915518C>T | GRCh37 |
| NC_000013.9:g.22813518C>T | NCBI36 |
| NG_012342.1:g.97324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+12406G>A | ENSP00000508399.1:n.2185+12406G>A | |
| ENST00000682944.1:c.2524G>A | ENSP00000507173.1:p.Glu842Lys | |
| ENST00000683210.1:c.2185+12406G>A | ENSP00000506739.1:n.2185+12406G>A | |
| ENST00000683270.1:c.2488G>A | ENSP00000507624.1:p.Glu830Lys | |
| ENST00000683367.1:c.2177-11895G>A | ENSP00000507780.1:n.2177-11895G>A | |
| ENST00000683489.1:c.2291+206G>A | ENSP00000508403.1:n.2291+206G>A | |
| ENST00000683680.1:c.2318+206G>A | ENSP00000507223.1:n.2318+206G>A | |
| ENST00000684163.1:c.2203+5432G>A | ENSP00000508262.1:n.2203+5432G>A | |
| ENST00000684196.1:n.4543-11895G>A | ||
| ENST00000684325.1:c.2185+12406G>A | ENSP00000508121.1:n.2185+12406G>A | |
| ENST00000684385.1:c.2220+5432G>A | ENSP00000507855.1:n.2220+5432G>A | |
| ENST00000684497.1:c.2185+12406G>A | ENSP00000507057.1:n.2185+12406G>A | |
| ENST00000382292.9:c.2497G>A MANE Select | ENSP00000371729.3:p.Glu833Lys | |
| ENST00000423156.2:c.2186-11895G>A | ENSP00000390925.2:n.2186-11895G>A | |
| ENST00000455470.6:c.2431+66G>A | ENSP00000406565.2:n.2431+66G>A | |
| ENST00000382292.7:c.2497G>A | ENSP00000371729.3:p.Glu833Lys | |
| ENST00000382298.7:c.2497G>A | ENSP00000371735.3:p.Glu833Lys | |
| ENST00000402364.1:c.247G>A | ENSP00000385844.1:p.Glu83Lys | |
| ENST00000423156.1:c.1058-11895G>A | ENSP00000390925.1:n.1058-11895G>A | |
| ENST00000455470.5:c.2129+66G>A | ||
| NM_001278055.1:c.2056G>A | NP_001264984.1:p.Glu686Lys | |
| NM_014363.5:c.2497G>A | NP_055178.3:p.Glu833Lys | |
| XM_005266338.1:c.2524G>A | XP_005266395.1:p.Glu842Lys | |
| XM_011535038.1:c.2548G>A | XP_011533340.1:p.Glu850Lys | |
| XM_011535039.1:c.2515G>A | XP_011533341.1:p.Glu839Lys | |
| XM_005266338.2:c.2524G>A | XP_005266395.1:p.Glu842Lys | |
| XM_011535039.2:c.2515G>A | XP_011533341.1:p.Glu839Lys | |
| XM_017020539.1:c.2488G>A | XP_016876028.1:p.Glu830Lys | |
| XM_024449337.1:c.2524G>A | XP_024305105.1:p.Glu842Lys | |
| NM_014363.6:c.2497G>A MANE Select | NP_055178.3:p.Glu833Lys | |
| NM_001278055.2:c.2056G>A | NP_001264984.1:p.Glu686Lys |