Linked Data
ClinVar Variation Id:
2053782
ClinVar RCV Id:
RCV002922772
dbSNP Id:
rs561282342
ExAC:
13:23913826 C / T
gnomAD v2:
13-23913826-C-T
gnomAD v3:
13-23339687-C-T
gnomAD v4:
13-23339687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23339687C>T , CM000675.2:g.23339687C>T | GRCh38 |
| NC_000013.10:g.23913826C>T , CM000675.1:g.23913826C>T | GRCh37 |
| NC_000013.9:g.22811826C>T | NCBI36 |
| NG_012342.1:g.99016G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+14098G>A | ENSP00000508399.1:n.2185+14098G>A | |
| ENST00000682944.1:c.4216G>A | ENSP00000507173.1:p.Glu1406Lys | |
| ENST00000683210.1:c.2185+14098G>A | ENSP00000506739.1:n.2185+14098G>A | |
| ENST00000683270.1:c.4180G>A | ENSP00000507624.1:p.Glu1394Lys | |
| ENST00000683367.1:c.2177-10203G>A | ENSP00000507780.1:n.2177-10203G>A | |
| ENST00000683489.1:c.2291+1898G>A | ENSP00000508403.1:n.2291+1898G>A | |
| ENST00000683680.1:c.2318+1898G>A | ENSP00000507223.1:n.2318+1898G>A | |
| ENST00000684163.1:c.2203+7124G>A | ENSP00000508262.1:n.2203+7124G>A | |
| ENST00000684196.1:n.4543-10203G>A | ||
| ENST00000684325.1:c.2185+14098G>A | ENSP00000508121.1:n.2185+14098G>A | |
| ENST00000684385.1:c.2220+7124G>A | ENSP00000507855.1:n.2220+7124G>A | |
| ENST00000684497.1:c.2185+14098G>A | ENSP00000507057.1:n.2185+14098G>A | |
| ENST00000382292.9:c.4189G>A MANE Select | ENSP00000371729.3:p.Glu1397Lys | |
| ENST00000423156.2:c.2186-10203G>A | ENSP00000390925.2:n.2186-10203G>A | |
| ENST00000455470.6:c.2431+1758G>A | ENSP00000406565.2:n.2431+1758G>A | |
| ENST00000382292.7:c.4189G>A | ENSP00000371729.3:p.Glu1397Lys | |
| ENST00000382298.7:c.4189G>A | ENSP00000371735.3:p.Glu1397Lys | |
| ENST00000402364.1:c.1939G>A | ENSP00000385844.1:p.Glu647Lys | |
| ENST00000423156.1:c.1058-10203G>A | ENSP00000390925.1:n.1058-10203G>A | |
| ENST00000455470.5:c.2129+1758G>A | ||
| NM_001278055.1:c.3748G>A | NP_001264984.1:p.Glu1250Lys | |
| NM_014363.5:c.4189G>A | NP_055178.3:p.Glu1397Lys | |
| XM_005266338.1:c.4216G>A | XP_005266395.1:p.Glu1406Lys | |
| XM_011535038.1:c.4240G>A | XP_011533340.1:p.Glu1414Lys | |
| XM_011535039.1:c.4207G>A | XP_011533341.1:p.Glu1403Lys | |
| XM_005266338.2:c.4216G>A | XP_005266395.1:p.Glu1406Lys | |
| XM_011535039.2:c.4207G>A | XP_011533341.1:p.Glu1403Lys | |
| XM_017020539.1:c.4180G>A | XP_016876028.1:p.Glu1394Lys | |
| XM_024449337.1:c.4216G>A | XP_024305105.1:p.Glu1406Lys | |
| NM_014363.6:c.4189G>A MANE Select | NP_055178.3:p.Glu1397Lys | |
| NM_001278055.2:c.3748G>A | NP_001264984.1:p.Glu1250Lys |