Linked Data
ClinVar Variation Id:
2801786
ClinVar RCV Id:
RCV003751624
dbSNP Id:
rs1187422287
gnomAD v2:
13-23908331-G-C
gnomAD v4:
13-23334192-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334192G>C , CM000675.2:g.23334192G>C | GRCh38 |
| NC_000013.10:g.23908331G>C , CM000675.1:g.23908331G>C | GRCh37 |
| NC_000013.9:g.22806331G>C | NCBI36 |
| NG_012342.1:g.104511C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19593C>G | ENSP00000508399.1:n.2185+19593C>G | |
| ENST00000682944.1:c.9711C>G | ENSP00000507173.1:p.Thr3237= | |
| ENST00000683210.1:c.2185+19593C>G | ENSP00000506739.1:n.2185+19593C>G | |
| ENST00000683270.1:c.6445+3230C>G | ENSP00000507624.1:n.6445+3230C>G | |
| ENST00000683367.1:c.2177-4708C>G | ENSP00000507780.1:n.2177-4708C>G | |
| ENST00000683489.1:c.2292-4240C>G | ENSP00000508403.1:n.2292-4240C>G | |
| ENST00000683680.1:c.2319-4240C>G | ENSP00000507223.1:n.2319-4240C>G | |
| ENST00000684163.1:c.2204-4708C>G | ENSP00000508262.1:n.2204-4708C>G | |
| ENST00000684196.1:n.4543-4708C>G | ||
| ENST00000684325.1:c.2186-12518C>G | ENSP00000508121.1:n.2186-12518C>G | |
| ENST00000684385.1:c.2221-4708C>G | ENSP00000507855.1:n.2221-4708C>G | |
| ENST00000684497.1:c.2186-11548C>G | ENSP00000507057.1:n.2186-11548C>G | |
| ENST00000382292.9:c.9684C>G MANE Select | ENSP00000371729.3:p.Thr3228= | |
| ENST00000423156.2:c.2186-4708C>G | ENSP00000390925.2:n.2186-4708C>G | |
| ENST00000455470.6:c.2432-4708C>G | ENSP00000406565.2:n.2432-4708C>G | |
| ENST00000382292.7:c.9684C>G | ENSP00000371729.3:p.Thr3228= | |
| ENST00000382298.7:c.9684C>G | ENSP00000371735.3:p.Thr3228= | |
| ENST00000402364.1:c.7434C>G | ENSP00000385844.1:p.Thr2478= | |
| ENST00000423156.1:c.1058-4708C>G | ENSP00000390925.1:n.1058-4708C>G | |
| ENST00000455470.5:c.2130-4708C>G | ||
| NM_001278055.1:c.9243C>G | NP_001264984.1:p.Thr3081= | |
| NM_014363.5:c.9684C>G | NP_055178.3:p.Thr3228= | |
| XM_005266338.1:c.9711C>G | XP_005266395.1:p.Thr3237= | |
| XM_011535038.1:c.9735C>G | XP_011533340.1:p.Thr3245= | |
| XM_011535039.1:c.9702C>G | XP_011533341.1:p.Thr3234= | |
| XM_005266338.2:c.9711C>G | XP_005266395.1:p.Thr3237= | |
| XM_011535039.2:c.9702C>G | XP_011533341.1:p.Thr3234= | |
| XM_017020539.1:c.9675C>G | XP_016876028.1:p.Thr3225= | |
| XM_024449337.1:c.9711C>G | XP_024305105.1:p.Thr3237= | |
| NM_014363.6:c.9684C>G MANE Select | NP_055178.3:p.Thr3228= | |
| NM_001278055.2:c.9243C>G | NP_001264984.1:p.Thr3081= |