Linked Data
ClinVar Variation Id:
311546
dbSNP Id:
rs757939935
ExAC:
13:23914147 C / A
gnomAD v2:
13-23914147-C-A
gnomAD v3:
13-23340008-C-A
gnomAD v4:
13-23340008-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340008C>A , CM000675.2:g.23340008C>A | GRCh38 |
| NC_000013.10:g.23914147C>A , CM000675.1:g.23914147C>A | GRCh37 |
| NC_000013.9:g.22812147C>A | NCBI36 |
| NG_012342.1:g.98695G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+13777G>T | ENSP00000508399.1:n.2185+13777G>T | |
| ENST00000682944.1:c.3895G>T | ENSP00000507173.1:p.Ala1299Ser | |
| ENST00000683210.1:c.2185+13777G>T | ENSP00000506739.1:n.2185+13777G>T | |
| ENST00000683270.1:c.3859G>T | ENSP00000507624.1:p.Ala1287Ser | |
| ENST00000683367.1:c.2177-10524G>T | ENSP00000507780.1:n.2177-10524G>T | |
| ENST00000683489.1:c.2291+1577G>T | ENSP00000508403.1:n.2291+1577G>T | |
| ENST00000683680.1:c.2318+1577G>T | ENSP00000507223.1:n.2318+1577G>T | |
| ENST00000684163.1:c.2203+6803G>T | ENSP00000508262.1:n.2203+6803G>T | |
| ENST00000684196.1:n.4543-10524G>T | ||
| ENST00000684325.1:c.2185+13777G>T | ENSP00000508121.1:n.2185+13777G>T | |
| ENST00000684385.1:c.2220+6803G>T | ENSP00000507855.1:n.2220+6803G>T | |
| ENST00000684497.1:c.2185+13777G>T | ENSP00000507057.1:n.2185+13777G>T | |
| ENST00000382292.9:c.3868G>T MANE Select | ENSP00000371729.3:p.Ala1290Ser | |
| ENST00000423156.2:c.2186-10524G>T | ENSP00000390925.2:n.2186-10524G>T | |
| ENST00000455470.6:c.2431+1437G>T | ENSP00000406565.2:n.2431+1437G>T | |
| ENST00000382292.7:c.3868G>T | ENSP00000371729.3:p.Ala1290Ser | |
| ENST00000382298.7:c.3868G>T | ENSP00000371735.3:p.Ala1290Ser | |
| ENST00000402364.1:c.1618G>T | ENSP00000385844.1:p.Ala540Ser | |
| ENST00000423156.1:c.1058-10524G>T | ENSP00000390925.1:n.1058-10524G>T | |
| ENST00000455470.5:c.2129+1437G>T | ||
| NM_001278055.1:c.3427G>T | NP_001264984.1:p.Ala1143Ser | |
| NM_014363.5:c.3868G>T | NP_055178.3:p.Ala1290Ser | |
| XM_005266338.1:c.3895G>T | XP_005266395.1:p.Ala1299Ser | |
| XM_011535038.1:c.3919G>T | XP_011533340.1:p.Ala1307Ser | |
| XM_011535039.1:c.3886G>T | XP_011533341.1:p.Ala1296Ser | |
| XM_005266338.2:c.3895G>T | XP_005266395.1:p.Ala1299Ser | |
| XM_011535039.2:c.3886G>T | XP_011533341.1:p.Ala1296Ser | |
| XM_017020539.1:c.3859G>T | XP_016876028.1:p.Ala1287Ser | |
| XM_024449337.1:c.3895G>T | XP_024305105.1:p.Ala1299Ser | |
| NM_014363.6:c.3868G>T MANE Select | NP_055178.3:p.Ala1290Ser | |
| NM_001278055.2:c.3427G>T | NP_001264984.1:p.Ala1143Ser |