Linked Data
ClinVar Variation Id:
448212
dbSNP Id:
rs35865691
ExAC:
13:23911964 C / G
gnomAD v2:
13-23911964-C-G
gnomAD v3:
13-23337825-C-G
gnomAD v4:
13-23337825-C-G
PubMed:
PMID:23280630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337825C>G , CM000675.2:g.23337825C>G | GRCh38 |
| NC_000013.10:g.23911964C>G , CM000675.1:g.23911964C>G | GRCh37 |
| NC_000013.9:g.22809964C>G | NCBI36 |
| NG_012342.1:g.100878G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15960G>C | ENSP00000508399.1:n.2185+15960G>C | |
| ENST00000682944.1:c.6078G>C | ENSP00000507173.1:p.Lys2026Asn | |
| ENST00000683210.1:c.2185+15960G>C | ENSP00000506739.1:n.2185+15960G>C | |
| ENST00000683270.1:c.6042G>C | ENSP00000507624.1:p.Lys2014Asn | |
| ENST00000683367.1:c.2177-8341G>C | ENSP00000507780.1:n.2177-8341G>C | |
| ENST00000683489.1:c.2291+3760G>C | ENSP00000508403.1:n.2291+3760G>C | |
| ENST00000683680.1:c.2318+3760G>C | ENSP00000507223.1:n.2318+3760G>C | |
| ENST00000684163.1:c.2204-8341G>C | ENSP00000508262.1:n.2204-8341G>C | |
| ENST00000684196.1:n.4543-8341G>C | ||
| ENST00000684325.1:c.2185+15960G>C | ENSP00000508121.1:n.2185+15960G>C | |
| ENST00000684385.1:c.2221-8341G>C | ENSP00000507855.1:n.2221-8341G>C | |
| ENST00000684497.1:c.2186-15181G>C | ENSP00000507057.1:n.2186-15181G>C | |
| ENST00000382292.9:c.6051G>C MANE Select | ENSP00000371729.3:p.Lys2017Asn | |
| ENST00000423156.2:c.2186-8341G>C | ENSP00000390925.2:n.2186-8341G>C | |
| ENST00000455470.6:c.2431+3620G>C | ENSP00000406565.2:n.2431+3620G>C | |
| ENST00000382292.7:c.6051G>C | ENSP00000371729.3:p.Lys2017Asn | |
| ENST00000382298.7:c.6051G>C | ENSP00000371735.3:p.Lys2017Asn | |
| ENST00000402364.1:c.3801G>C | ENSP00000385844.1:p.Lys1267Asn | |
| ENST00000423156.1:c.1058-8341G>C | ENSP00000390925.1:n.1058-8341G>C | |
| ENST00000455470.5:c.2129+3620G>C | ||
| NM_001278055.1:c.5610G>C | NP_001264984.1:p.Lys1870Asn | |
| NM_014363.5:c.6051G>C | NP_055178.3:p.Lys2017Asn | |
| XM_005266338.1:c.6078G>C | XP_005266395.1:p.Lys2026Asn | |
| XM_011535038.1:c.6102G>C | XP_011533340.1:p.Lys2034Asn | |
| XM_011535039.1:c.6069G>C | XP_011533341.1:p.Lys2023Asn | |
| XM_005266338.2:c.6078G>C | XP_005266395.1:p.Lys2026Asn | |
| XM_011535039.2:c.6069G>C | XP_011533341.1:p.Lys2023Asn | |
| XM_017020539.1:c.6042G>C | XP_016876028.1:p.Lys2014Asn | |
| XM_024449337.1:c.6078G>C | XP_024305105.1:p.Lys2026Asn | |
| NM_014363.6:c.6051G>C MANE Select | NP_055178.3:p.Lys2017Asn | |
| NM_001278055.2:c.5610G>C | NP_001264984.1:p.Lys1870Asn |