Linked Data
ClinVar Variation Id:
1343991
dbSNP Id:
rs1002701621
gnomAD v2:
13-23912692-C-T
gnomAD v3:
13-23338553-C-T
gnomAD v4:
13-23338553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338553C>T , CM000675.2:g.23338553C>T | GRCh38 |
| NC_000013.10:g.23912692C>T , CM000675.1:g.23912692C>T | GRCh37 |
| NC_000013.9:g.22810692C>T | NCBI36 |
| NG_012342.1:g.100150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15232G>A | ENSP00000508399.1:n.2185+15232G>A | |
| ENST00000682944.1:c.5350G>A | ENSP00000507173.1:p.Ala1784Thr | |
| ENST00000683210.1:c.2185+15232G>A | ENSP00000506739.1:n.2185+15232G>A | |
| ENST00000683270.1:c.5314G>A | ENSP00000507624.1:p.Ala1772Thr | |
| ENST00000683367.1:c.2177-9069G>A | ENSP00000507780.1:n.2177-9069G>A | |
| ENST00000683489.1:c.2291+3032G>A | ENSP00000508403.1:n.2291+3032G>A | |
| ENST00000683680.1:c.2318+3032G>A | ENSP00000507223.1:n.2318+3032G>A | |
| ENST00000684163.1:c.2203+8258G>A | ENSP00000508262.1:n.2203+8258G>A | |
| ENST00000684196.1:n.4543-9069G>A | ||
| ENST00000684325.1:c.2185+15232G>A | ENSP00000508121.1:n.2185+15232G>A | |
| ENST00000684385.1:c.2220+8258G>A | ENSP00000507855.1:n.2220+8258G>A | |
| ENST00000684497.1:c.2185+15232G>A | ENSP00000507057.1:n.2185+15232G>A | |
| ENST00000382292.9:c.5323G>A MANE Select | ENSP00000371729.3:p.Ala1775Thr | |
| ENST00000423156.2:c.2186-9069G>A | ENSP00000390925.2:n.2186-9069G>A | |
| ENST00000455470.6:c.2431+2892G>A | ENSP00000406565.2:n.2431+2892G>A | |
| ENST00000382292.7:c.5323G>A | ENSP00000371729.3:p.Ala1775Thr | |
| ENST00000382298.7:c.5323G>A | ENSP00000371735.3:p.Ala1775Thr | |
| ENST00000402364.1:c.3073G>A | ENSP00000385844.1:p.Ala1025Thr | |
| ENST00000423156.1:c.1058-9069G>A | ENSP00000390925.1:n.1058-9069G>A | |
| ENST00000455470.5:c.2129+2892G>A | ||
| NM_001278055.1:c.4882G>A | NP_001264984.1:p.Ala1628Thr | |
| NM_014363.5:c.5323G>A | NP_055178.3:p.Ala1775Thr | |
| XM_005266338.1:c.5350G>A | XP_005266395.1:p.Ala1784Thr | |
| XM_011535038.1:c.5374G>A | XP_011533340.1:p.Ala1792Thr | |
| XM_011535039.1:c.5341G>A | XP_011533341.1:p.Ala1781Thr | |
| XM_005266338.2:c.5350G>A | XP_005266395.1:p.Ala1784Thr | |
| XM_011535039.2:c.5341G>A | XP_011533341.1:p.Ala1781Thr | |
| XM_017020539.1:c.5314G>A | XP_016876028.1:p.Ala1772Thr | |
| XM_024449337.1:c.5350G>A | XP_024305105.1:p.Ala1784Thr | |
| NM_014363.6:c.5323G>A MANE Select | NP_055178.3:p.Ala1775Thr | |
| NM_001278055.2:c.4882G>A | NP_001264984.1:p.Ala1628Thr |