Linked Data
ClinVar Variation Id:
212112
ClinVar RCV Id:
RCV000193535
RCV000338267
RCV000470007
RCV001083422
RCV001847871
RCV003907705
RCV004020340
dbSNP Id:
rs144267558
ExAC:
13:23914588 G / T
gnomAD v2:
13-23914588-G-T
gnomAD v3:
13-23340449-G-T
gnomAD v4:
13-23340449-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340449G>T , CM000675.2:g.23340449G>T | GRCh38 |
| NC_000013.10:g.23914588G>T , CM000675.1:g.23914588G>T | GRCh37 |
| NC_000013.9:g.22812588G>T | NCBI36 |
| NG_012342.1:g.98254C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+13336C>A | ENSP00000508399.1:n.2185+13336C>A | |
| ENST00000682944.1:c.3454C>A | ENSP00000507173.1:p.Gln1152Lys | |
| ENST00000683210.1:c.2185+13336C>A | ENSP00000506739.1:n.2185+13336C>A | |
| ENST00000683270.1:c.3418C>A | ENSP00000507624.1:p.Gln1140Lys | |
| ENST00000683367.1:c.2177-10965C>A | ENSP00000507780.1:n.2177-10965C>A | |
| ENST00000683489.1:c.2291+1136C>A | ENSP00000508403.1:n.2291+1136C>A | |
| ENST00000683680.1:c.2318+1136C>A | ENSP00000507223.1:n.2318+1136C>A | |
| ENST00000684163.1:c.2203+6362C>A | ENSP00000508262.1:n.2203+6362C>A | |
| ENST00000684196.1:n.4543-10965C>A | ||
| ENST00000684325.1:c.2185+13336C>A | ENSP00000508121.1:n.2185+13336C>A | |
| ENST00000684385.1:c.2220+6362C>A | ENSP00000507855.1:n.2220+6362C>A | |
| ENST00000684497.1:c.2185+13336C>A | ENSP00000507057.1:n.2185+13336C>A | |
| ENST00000382292.9:c.3427C>A MANE Select | ENSP00000371729.3:p.Gln1143Lys | |
| ENST00000423156.2:c.2186-10965C>A | ENSP00000390925.2:n.2186-10965C>A | |
| ENST00000455470.6:c.2431+996C>A | ENSP00000406565.2:n.2431+996C>A | |
| ENST00000382292.7:c.3427C>A | ENSP00000371729.3:p.Gln1143Lys | |
| ENST00000382298.7:c.3427C>A | ENSP00000371735.3:p.Gln1143Lys | |
| ENST00000402364.1:c.1177C>A | ENSP00000385844.1:p.Gln393Lys | |
| ENST00000423156.1:c.1058-10965C>A | ENSP00000390925.1:n.1058-10965C>A | |
| ENST00000455470.5:c.2129+996C>A | ||
| NM_001278055.1:c.2986C>A | NP_001264984.1:p.Gln996Lys | |
| NM_014363.5:c.3427C>A | NP_055178.3:p.Gln1143Lys | |
| XM_005266338.1:c.3454C>A | XP_005266395.1:p.Gln1152Lys | |
| XM_011535038.1:c.3478C>A | XP_011533340.1:p.Gln1160Lys | |
| XM_011535039.1:c.3445C>A | XP_011533341.1:p.Gln1149Lys | |
| XM_005266338.2:c.3454C>A | XP_005266395.1:p.Gln1152Lys | |
| XM_011535039.2:c.3445C>A | XP_011533341.1:p.Gln1149Lys | |
| XM_017020539.1:c.3418C>A | XP_016876028.1:p.Gln1140Lys | |
| XM_024449337.1:c.3454C>A | XP_024305105.1:p.Gln1152Lys | |
| NM_014363.6:c.3427C>A MANE Select | NP_055178.3:p.Gln1143Lys | |
| NM_001278055.2:c.2986C>A | NP_001264984.1:p.Gln996Lys |