Linked Data
ClinVar Variation Id:
2197421
ClinVar RCV Id:
RCV002637682
dbSNP Id:
rs760354375
ExAC:
13:23905237 A / G
gnomAD v2:
13-23905237-A-G
gnomAD v3:
13-23331098-A-G
gnomAD v4:
13-23331098-A-G
MyVariant Identifiers:
chr13:g.23905237A>G (hg19)
chr13:g.23905237_23905240delinsGAGG (hg19)
chr13:g.23331098A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23331098A>G , CM000675.2:g.23331098A>G | GRCh38 |
| NC_000013.10:g.23905237A>G , CM000675.1:g.23905237A>G | GRCh37 |
| NC_000013.9:g.22803237A>G | NCBI36 |
| NG_012342.1:g.107605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18983T>C | ENSP00000508399.1:n.2186-18983T>C | |
| ENST00000682944.1:c.12805T>C | ENSP00000507173.1:p.Ser4269Pro | |
| ENST00000683210.1:c.2185+22687T>C | ENSP00000506739.1:n.2185+22687T>C | |
| ENST00000683270.1:c.6446-1614T>C | ENSP00000507624.1:n.6446-1614T>C | |
| ENST00000683367.1:c.2177-1614T>C | ENSP00000507780.1:n.2177-1614T>C | |
| ENST00000683489.1:c.2292-1146T>C | ENSP00000508403.1:n.2292-1146T>C | |
| ENST00000683680.1:c.2319-1146T>C | ENSP00000507223.1:n.2319-1146T>C | |
| ENST00000684163.1:c.2204-1614T>C | ENSP00000508262.1:n.2204-1614T>C | |
| ENST00000684196.1:n.4543-1614T>C | ||
| ENST00000684325.1:c.2186-9424T>C | ENSP00000508121.1:n.2186-9424T>C | |
| ENST00000684385.1:c.2221-1614T>C | ENSP00000507855.1:n.2221-1614T>C | |
| ENST00000684497.1:c.2186-8454T>C | ENSP00000507057.1:n.2186-8454T>C | |
| ENST00000382292.9:c.12778T>C MANE Select | ENSP00000371729.3:p.Ser4260Pro | |
| ENST00000423156.2:c.2186-1614T>C | ENSP00000390925.2:n.2186-1614T>C | |
| ENST00000455470.6:c.2432-1614T>C | ENSP00000406565.2:n.2432-1614T>C | |
| ENST00000382292.7:c.12778T>C | ENSP00000371729.3:p.Ser4260Pro | |
| ENST00000382298.7:c.12778T>C | ENSP00000371735.3:p.Ser4260Pro | |
| ENST00000402364.1:c.10528T>C | ENSP00000385844.1:p.Ser3510Pro | |
| ENST00000423156.1:c.1058-1614T>C | ENSP00000390925.1:n.1058-1614T>C | |
| ENST00000455470.5:c.2130-1614T>C | ||
| NM_001278055.1:c.12337T>C | NP_001264984.1:p.Ser4113Pro | |
| NM_014363.5:c.12778T>C | NP_055178.3:p.Ser4260Pro | |
| XM_005266338.1:c.12805T>C | XP_005266395.1:p.Ser4269Pro | |
| XM_011535038.1:c.12829T>C | XP_011533340.1:p.Ser4277Pro | |
| XM_011535039.1:c.12796T>C | XP_011533341.1:p.Ser4266Pro | |
| XM_005266338.2:c.12805T>C | XP_005266395.1:p.Ser4269Pro | |
| XM_011535039.2:c.12796T>C | XP_011533341.1:p.Ser4266Pro | |
| XM_017020539.1:c.12769T>C | XP_016876028.1:p.Ser4257Pro | |
| XM_024449337.1:c.12805T>C | XP_024305105.1:p.Ser4269Pro | |
| NM_014363.6:c.12778T>C MANE Select | NP_055178.3:p.Ser4260Pro | |
| NM_001278055.2:c.12337T>C | NP_001264984.1:p.Ser4113Pro |