Linked Data
ClinVar Variation Id:
2221613
ClinVar RCV Id:
RCV002683128
dbSNP Id:
rs761098842
ExAC:
13:23905173 G / C
gnomAD v2:
13-23905173-G-C
gnomAD v4:
13-23331034-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23331034G>C , CM000675.2:g.23331034G>C | GRCh38 |
| NC_000013.10:g.23905173G>C , CM000675.1:g.23905173G>C | GRCh37 |
| NC_000013.9:g.22803173G>C | NCBI36 |
| NG_012342.1:g.107669C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18919C>G | ENSP00000508399.1:n.2186-18919C>G | |
| ENST00000682944.1:c.12869C>G | ENSP00000507173.1:p.Ser4290Cys | |
| ENST00000683210.1:c.2185+22751C>G | ENSP00000506739.1:n.2185+22751C>G | |
| ENST00000683270.1:c.6446-1550C>G | ENSP00000507624.1:n.6446-1550C>G | |
| ENST00000683367.1:c.2177-1550C>G | ENSP00000507780.1:n.2177-1550C>G | |
| ENST00000683489.1:c.2292-1082C>G | ENSP00000508403.1:n.2292-1082C>G | |
| ENST00000683680.1:c.2319-1082C>G | ENSP00000507223.1:n.2319-1082C>G | |
| ENST00000684163.1:c.2204-1550C>G | ENSP00000508262.1:n.2204-1550C>G | |
| ENST00000684196.1:n.4543-1550C>G | ||
| ENST00000684325.1:c.2186-9360C>G | ENSP00000508121.1:n.2186-9360C>G | |
| ENST00000684385.1:c.2221-1550C>G | ENSP00000507855.1:n.2221-1550C>G | |
| ENST00000684497.1:c.2186-8390C>G | ENSP00000507057.1:n.2186-8390C>G | |
| ENST00000382292.9:c.12842C>G MANE Select | ENSP00000371729.3:p.Ser4281Cys | |
| ENST00000423156.2:c.2186-1550C>G | ENSP00000390925.2:n.2186-1550C>G | |
| ENST00000455470.6:c.2432-1550C>G | ENSP00000406565.2:n.2432-1550C>G | |
| ENST00000382292.7:c.12842C>G | ENSP00000371729.3:p.Ser4281Cys | |
| ENST00000382298.7:c.12842C>G | ENSP00000371735.3:p.Ser4281Cys | |
| ENST00000402364.1:c.10592C>G | ENSP00000385844.1:p.Ser3531Cys | |
| ENST00000423156.1:c.1058-1550C>G | ENSP00000390925.1:n.1058-1550C>G | |
| ENST00000455470.5:c.2130-1550C>G | ||
| NM_001278055.1:c.12401C>G | NP_001264984.1:p.Ser4134Cys | |
| NM_014363.5:c.12842C>G | NP_055178.3:p.Ser4281Cys | |
| XM_005266338.1:c.12869C>G | XP_005266395.1:p.Ser4290Cys | |
| XM_011535038.1:c.12893C>G | XP_011533340.1:p.Ser4298Cys | |
| XM_011535039.1:c.12860C>G | XP_011533341.1:p.Ser4287Cys | |
| XM_005266338.2:c.12869C>G | XP_005266395.1:p.Ser4290Cys | |
| XM_011535039.2:c.12860C>G | XP_011533341.1:p.Ser4287Cys | |
| XM_017020539.1:c.12833C>G | XP_016876028.1:p.Ser4278Cys | |
| XM_024449337.1:c.12869C>G | XP_024305105.1:p.Ser4290Cys | |
| NM_014363.6:c.12842C>G MANE Select | NP_055178.3:p.Ser4281Cys | |
| NM_001278055.2:c.12401C>G | NP_001264984.1:p.Ser4134Cys |