Linked Data
ClinVar Variation Id:
260393
dbSNP Id:
rs3751368
ExAC:
13:23949252 G / A
gnomAD v2:
13-23949252-G-A
gnomAD v3:
13-23375113-G-A
gnomAD v4:
13-23375113-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23375113G>A , CM000675.2:g.23375113G>A | GRCh38 |
| NC_000013.10:g.23949252G>A , CM000675.1:g.23949252G>A | GRCh37 |
| NC_000013.9:g.22847252G>A | NCBI36 |
| NG_012342.1:g.63590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682244.1:n.744+6C>T | ||
| ENST00000682547.1:c.208+6C>T | ENSP00000507735.1:n.208+6C>T | |
| ENST00000682775.1:c.171+6C>T | ENSP00000508399.1:n.171+6C>T | |
| ENST00000682944.1:c.171+6C>T | ENSP00000507173.1:n.171+6C>T | |
| ENST00000683154.1:n.309+6C>T | ||
| ENST00000683210.1:c.171+6C>T | ENSP00000506739.1:n.171+6C>T | |
| ENST00000683270.1:c.162+6C>T | ENSP00000507624.1:n.162+6C>T | |
| ENST00000683367.1:c.162+6C>T | ENSP00000507780.1:n.162+6C>T | |
| ENST00000683489.1:c.171+6C>T | ENSP00000508403.1:n.171+6C>T | |
| ENST00000683680.1:c.171+6C>T | ENSP00000507223.1:n.171+6C>T | |
| ENST00000684053.1:n.288+6C>T | ||
| ENST00000684163.1:c.162+6C>T | ENSP00000508262.1:n.162+6C>T | |
| ENST00000684325.1:c.171+6C>T | ENSP00000508121.1:n.171+6C>T | |
| ENST00000684385.1:c.171+6C>T | ENSP00000507855.1:n.171+6C>T | |
| ENST00000684497.1:c.171+6C>T | ENSP00000507057.1:n.171+6C>T | |
| ENST00000382292.9:c.171+6C>T MANE Select | ENSP00000371729.3:n.171+6C>T | |
| ENST00000423156.2:c.171+6C>T | ENSP00000390925.2:n.171+6C>T | |
| ENST00000455470.6:c.171+6C>T | ENSP00000406565.2:n.171+6C>T | |
| ENST00000382292.7:c.171+6C>T | ENSP00000371729.3:n.171+6C>T | |
| ENST00000382298.7:c.171+6C>T | ENSP00000371735.3:n.171+6C>T | |
| ENST00000402364.1:c.-1992+6C>T | ENSP00000385844.1:n.-1992+6C>T | |
| NM_001278055.1:c.-183+6C>T | NP_001264984.1:n.-183+6C>T | |
| NM_014363.5:c.171+6C>T | NP_055178.3:n.171+6C>T | |
| XM_005266338.1:c.171+6C>T | XP_005266395.1:n.171+6C>T | |
| XM_011535038.1:c.195+6C>T | XP_011533340.1:n.195+6C>T | |
| XM_011535039.1:c.162+6C>T | XP_011533341.1:n.162+6C>T | |
| XM_005266338.2:c.171+6C>T | XP_005266395.1:n.171+6C>T | |
| XM_011535039.2:c.162+6C>T | XP_011533341.1:n.162+6C>T | |
| XM_017020539.1:c.162+6C>T | XP_016876028.1:n.162+6C>T | |
| XM_024449337.1:c.171+6C>T | XP_024305105.1:n.171+6C>T | |
| NM_014363.6:c.171+6C>T MANE Select | NP_055178.3:n.171+6C>T | |
| NM_001278055.2:c.-183+6C>T | NP_001264984.1:n.-183+6C>T |