Linked Data
ClinVar Variation Id:
2056994
ClinVar RCV Id:
RCV002914751
dbSNP Id:
rs777287881
ExAC:
13:23910840 C / T
gnomAD v2:
13-23910840-C-T
gnomAD v4:
13-23336701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336701C>T , CM000675.2:g.23336701C>T | GRCh38 |
| NC_000013.10:g.23910840C>T , CM000675.1:g.23910840C>T | GRCh37 |
| NC_000013.9:g.22808840C>T | NCBI36 |
| NG_012342.1:g.102002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17084G>A | ENSP00000508399.1:n.2185+17084G>A | |
| ENST00000682944.1:c.7202G>A | ENSP00000507173.1:p.Arg2401Lys | |
| ENST00000683210.1:c.2185+17084G>A | ENSP00000506739.1:n.2185+17084G>A | |
| ENST00000683270.1:c.6445+721G>A | ENSP00000507624.1:n.6445+721G>A | |
| ENST00000683367.1:c.2177-7217G>A | ENSP00000507780.1:n.2177-7217G>A | |
| ENST00000683489.1:c.2291+4884G>A | ENSP00000508403.1:n.2291+4884G>A | |
| ENST00000683680.1:c.2318+4884G>A | ENSP00000507223.1:n.2318+4884G>A | |
| ENST00000684163.1:c.2204-7217G>A | ENSP00000508262.1:n.2204-7217G>A | |
| ENST00000684196.1:n.4543-7217G>A | ||
| ENST00000684325.1:c.2186-15027G>A | ENSP00000508121.1:n.2186-15027G>A | |
| ENST00000684385.1:c.2221-7217G>A | ENSP00000507855.1:n.2221-7217G>A | |
| ENST00000684497.1:c.2186-14057G>A | ENSP00000507057.1:n.2186-14057G>A | |
| ENST00000382292.9:c.7175G>A MANE Select | ENSP00000371729.3:p.Arg2392Lys | |
| ENST00000423156.2:c.2186-7217G>A | ENSP00000390925.2:n.2186-7217G>A | |
| ENST00000455470.6:c.2431+4744G>A | ENSP00000406565.2:n.2431+4744G>A | |
| ENST00000382292.7:c.7175G>A | ENSP00000371729.3:p.Arg2392Lys | |
| ENST00000382298.7:c.7175G>A | ENSP00000371735.3:p.Arg2392Lys | |
| ENST00000402364.1:c.4925G>A | ENSP00000385844.1:p.Arg1642Lys | |
| ENST00000423156.1:c.1058-7217G>A | ENSP00000390925.1:n.1058-7217G>A | |
| ENST00000455470.5:c.2129+4744G>A | ||
| NM_001278055.1:c.6734G>A | NP_001264984.1:p.Arg2245Lys | |
| NM_014363.5:c.7175G>A | NP_055178.3:p.Arg2392Lys | |
| XM_005266338.1:c.7202G>A | XP_005266395.1:p.Arg2401Lys | |
| XM_011535038.1:c.7226G>A | XP_011533340.1:p.Arg2409Lys | |
| XM_011535039.1:c.7193G>A | XP_011533341.1:p.Arg2398Lys | |
| XM_005266338.2:c.7202G>A | XP_005266395.1:p.Arg2401Lys | |
| XM_011535039.2:c.7193G>A | XP_011533341.1:p.Arg2398Lys | |
| XM_017020539.1:c.7166G>A | XP_016876028.1:p.Arg2389Lys | |
| XM_024449337.1:c.7202G>A | XP_024305105.1:p.Arg2401Lys | |
| NM_014363.6:c.7175G>A MANE Select | NP_055178.3:p.Arg2392Lys | |
| NM_001278055.2:c.6734G>A | NP_001264984.1:p.Arg2245Lys |