Linked Data
ClinVar Variation Id:
287211
dbSNP Id:
rs550680855
ExAC:
13:23911775 A / G
gnomAD v2:
13-23911775-A-G
gnomAD v3:
13-23337636-A-G
gnomAD v4:
13-23337636-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337636A>G , CM000675.2:g.23337636A>G | GRCh38 |
| NC_000013.10:g.23911775A>G , CM000675.1:g.23911775A>G | GRCh37 |
| NC_000013.9:g.22809775A>G | NCBI36 |
| NG_012342.1:g.101067T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+16149T>C | ENSP00000508399.1:n.2185+16149T>C | |
| ENST00000682944.1:c.6267T>C | ENSP00000507173.1:p.Val2089= | |
| ENST00000683210.1:c.2185+16149T>C | ENSP00000506739.1:n.2185+16149T>C | |
| ENST00000683270.1:c.6231T>C | ENSP00000507624.1:p.Val2077= | |
| ENST00000683367.1:c.2177-8152T>C | ENSP00000507780.1:n.2177-8152T>C | |
| ENST00000683489.1:c.2291+3949T>C | ENSP00000508403.1:n.2291+3949T>C | |
| ENST00000683680.1:c.2318+3949T>C | ENSP00000507223.1:n.2318+3949T>C | |
| ENST00000684163.1:c.2204-8152T>C | ENSP00000508262.1:n.2204-8152T>C | |
| ENST00000684196.1:n.4543-8152T>C | ||
| ENST00000684325.1:c.2186-15962T>C | ENSP00000508121.1:n.2186-15962T>C | |
| ENST00000684385.1:c.2221-8152T>C | ENSP00000507855.1:n.2221-8152T>C | |
| ENST00000684497.1:c.2186-14992T>C | ENSP00000507057.1:n.2186-14992T>C | |
| ENST00000382292.9:c.6240T>C MANE Select | ENSP00000371729.3:p.Val2080= | |
| ENST00000423156.2:c.2186-8152T>C | ENSP00000390925.2:n.2186-8152T>C | |
| ENST00000455470.6:c.2431+3809T>C | ENSP00000406565.2:n.2431+3809T>C | |
| ENST00000382292.7:c.6240T>C | ENSP00000371729.3:p.Val2080= | |
| ENST00000382298.7:c.6240T>C | ENSP00000371735.3:p.Val2080= | |
| ENST00000402364.1:c.3990T>C | ENSP00000385844.1:p.Val1330= | |
| ENST00000423156.1:c.1058-8152T>C | ENSP00000390925.1:n.1058-8152T>C | |
| ENST00000455470.5:c.2129+3809T>C | ||
| NM_001278055.1:c.5799T>C | NP_001264984.1:p.Val1933= | |
| NM_014363.5:c.6240T>C | NP_055178.3:p.Val2080= | |
| XM_005266338.1:c.6267T>C | XP_005266395.1:p.Val2089= | |
| XM_011535038.1:c.6291T>C | XP_011533340.1:p.Val2097= | |
| XM_011535039.1:c.6258T>C | XP_011533341.1:p.Val2086= | |
| XM_005266338.2:c.6267T>C | XP_005266395.1:p.Val2089= | |
| XM_011535039.2:c.6258T>C | XP_011533341.1:p.Val2086= | |
| XM_017020539.1:c.6231T>C | XP_016876028.1:p.Val2077= | |
| XM_024449337.1:c.6267T>C | XP_024305105.1:p.Val2089= | |
| NM_014363.6:c.6240T>C MANE Select | NP_055178.3:p.Val2080= | |
| NM_001278055.2:c.5799T>C | NP_001264984.1:p.Val1933= |