Linked Data
ClinVar Variation Id:
311536
dbSNP Id:
rs747566710
ExAC:
13:23911956 C / T
gnomAD v2:
13-23911956-C-T
gnomAD v3:
13-23337817-C-T
gnomAD v4:
13-23337817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337817C>T , CM000675.2:g.23337817C>T | GRCh38 |
| NC_000013.10:g.23911956C>T , CM000675.1:g.23911956C>T | GRCh37 |
| NC_000013.9:g.22809956C>T | NCBI36 |
| NG_012342.1:g.100886G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+15968G>A | ENSP00000508399.1:n.2185+15968G>A | |
| ENST00000682944.1:c.6086G>A | ENSP00000507173.1:p.Gly2029Glu | |
| ENST00000683210.1:c.2185+15968G>A | ENSP00000506739.1:n.2185+15968G>A | |
| ENST00000683270.1:c.6050G>A | ENSP00000507624.1:p.Gly2017Glu | |
| ENST00000683367.1:c.2177-8333G>A | ENSP00000507780.1:n.2177-8333G>A | |
| ENST00000683489.1:c.2291+3768G>A | ENSP00000508403.1:n.2291+3768G>A | |
| ENST00000683680.1:c.2318+3768G>A | ENSP00000507223.1:n.2318+3768G>A | |
| ENST00000684163.1:c.2204-8333G>A | ENSP00000508262.1:n.2204-8333G>A | |
| ENST00000684196.1:n.4543-8333G>A | ||
| ENST00000684325.1:c.2185+15968G>A | ENSP00000508121.1:n.2185+15968G>A | |
| ENST00000684385.1:c.2221-8333G>A | ENSP00000507855.1:n.2221-8333G>A | |
| ENST00000684497.1:c.2186-15173G>A | ENSP00000507057.1:n.2186-15173G>A | |
| ENST00000382292.9:c.6059G>A MANE Select | ENSP00000371729.3:p.Gly2020Glu | |
| ENST00000423156.2:c.2186-8333G>A | ENSP00000390925.2:n.2186-8333G>A | |
| ENST00000455470.6:c.2431+3628G>A | ENSP00000406565.2:n.2431+3628G>A | |
| ENST00000382292.7:c.6059G>A | ENSP00000371729.3:p.Gly2020Glu | |
| ENST00000382298.7:c.6059G>A | ENSP00000371735.3:p.Gly2020Glu | |
| ENST00000402364.1:c.3809G>A | ENSP00000385844.1:p.Gly1270Glu | |
| ENST00000423156.1:c.1058-8333G>A | ENSP00000390925.1:n.1058-8333G>A | |
| ENST00000455470.5:c.2129+3628G>A | ||
| NM_001278055.1:c.5618G>A | NP_001264984.1:p.Gly1873Glu | |
| NM_014363.5:c.6059G>A | NP_055178.3:p.Gly2020Glu | |
| XM_005266338.1:c.6086G>A | XP_005266395.1:p.Gly2029Glu | |
| XM_011535038.1:c.6110G>A | XP_011533340.1:p.Gly2037Glu | |
| XM_011535039.1:c.6077G>A | XP_011533341.1:p.Gly2026Glu | |
| XM_005266338.2:c.6086G>A | XP_005266395.1:p.Gly2029Glu | |
| XM_011535039.2:c.6077G>A | XP_011533341.1:p.Gly2026Glu | |
| XM_017020539.1:c.6050G>A | XP_016876028.1:p.Gly2017Glu | |
| XM_024449337.1:c.6086G>A | XP_024305105.1:p.Gly2029Glu | |
| NM_014363.6:c.6059G>A MANE Select | NP_055178.3:p.Gly2020Glu | |
| NM_001278055.2:c.5618G>A | NP_001264984.1:p.Gly1873Glu |