Linked Data
ClinVar Variation Id:
255619
dbSNP Id:
rs554738793
gnomAD v2:
3-70008576-G-A
gnomAD v3:
3-69959425-G-A
gnomAD v4:
3-69959425-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69959425G>A , CM000665.2:g.69959425G>A | GRCh38 |
| NC_000003.11:g.70008576G>A , CM000665.1:g.70008576G>A | GRCh37 |
| NC_000003.10:g.70091266G>A | NCBI36 |
| NG_011631.1:g.224944G>A , LRG_776:g.224944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1113+5G>A | ENSP00000324443.5:n.1113+5G>A | |
| ENST00000687384.1:c.1110+5G>A | ENSP00000510225.1:n.1110+5G>A | |
| ENST00000689390.1:n.1335+5G>A | ||
| ENST00000693031.1:c.1086+5G>A | ENSP00000509845.1:n.1086+5G>A | |
| ENST00000693549.1:c.1113+5G>A | ENSP00000509358.1:n.1113+5G>A | |
| ENST00000314589.10:c.1113+5G>A | ENSP00000324443.5:n.1113+5G>A | |
| ENST00000352241.9:c.1179+5G>A MANE Select | ENSP00000295600.8:n.1179+5G>A | |
| ENST00000394351.9:c.858+5G>A MANE Plus Clinical | ENSP00000377880.3:n.858+5G>A | |
| ENST00000448226.9:c.1158+5G>A | ENSP00000391803.3:n.1158+5G>A | |
| ENST00000642352.1:c.1161+5G>A | ENSP00000494105.1:n.1161+5G>A | |
| ENST00000314557.10:c.840+5G>A | ENSP00000324246.6:n.840+5G>A | |
| ENST00000314589.9:c.1113+5G>A | ENSP00000324443.5:n.1113+5G>A | |
| ENST00000328528.10:c.1158+5G>A | ENSP00000327867.6:n.1158+5G>A | |
| ENST00000352241.8:c.1161+5G>A | ENSP00000295600.7:n.1161+5G>A | |
| ENST00000394351.7:c.858+5G>A | ENSP00000377880.3:n.858+5G>A | |
| ENST00000448226.6:c.1179+5G>A | ENSP00000391803.2:n.1179+5G>A | |
| ENST00000472437.5:c.1005+5G>A | ENSP00000418845.1:n.1005+5G>A | |
| ENST00000478490.5:c.*505+5G>A | ENSP00000433487.1:n.*505+5G>A | |
| ENST00000531774.1:c.672+5G>A | ENSP00000435909.1:n.672+5G>A | |
| NM_000248.3:c.858+5G>A , LRG_776t1:c.858+5G>A | NP_000239.1:n.858+5G>A | |
| NM_001184967.1:c.1005+5G>A | NP_001171896.1:n.1005+5G>A | |
| NM_006722.2:c.1158+5G>A | NP_006713.1:n.1158+5G>A | |
| NM_198158.2:c.840+5G>A | NP_937801.1:n.840+5G>A | |
| NM_198159.2:c.1161+5G>A | NP_937802.1:n.1161+5G>A | |
| NM_198177.2:c.1113+5G>A | NP_937820.1:n.1113+5G>A | |
| NM_198178.2:c.672+5G>A | NP_937821.2:n.672+5G>A | |
| XM_005264754.1:c.1179+5G>A | XP_005264811.1:n.1179+5G>A | |
| XM_005264755.2:c.1131+5G>A | XP_005264812.1:n.1131+5G>A | |
| XM_006713164.2:c.1023+5G>A | XP_006713227.1:n.1023+5G>A | |
| XM_011533722.1:c.1176+5G>A | XP_011532024.1:n.1176+5G>A | |
| XM_011533723.1:c.1128+5G>A | XP_011532025.1:n.1128+5G>A | |
| XM_011533724.1:c.1023+5G>A | XP_011532026.1:n.1023+5G>A | |
| XM_011533725.1:c.1011+5G>A | XP_011532027.1:n.1011+5G>A | |
| XM_011533726.1:c.993+5G>A | XP_011532028.1:n.993+5G>A | |
| NM_001354604.1:c.1179+5G>A | NP_001341533.1:n.1179+5G>A | |
| NM_001354605.1:c.1176+5G>A | NP_001341534.1:n.1176+5G>A | |
| NM_001354606.1:c.1158+5G>A | NP_001341535.1:n.1158+5G>A | |
| NM_001354607.1:c.1110+5G>A | NP_001341536.1:n.1110+5G>A | |
| NM_001354608.1:c.1005+5G>A | NP_001341537.1:n.1005+5G>A | |
| NM_001184967.2:c.1005+5G>A | NP_001171896.1:n.1005+5G>A | |
| NM_001354604.2:c.1179+5G>A MANE Select | NP_001341533.1:n.1179+5G>A | |
| NM_001354605.2:c.1176+5G>A | NP_001341534.1:n.1176+5G>A | |
| NM_001354606.2:c.1158+5G>A | NP_001341535.1:n.1158+5G>A | |
| NM_001354607.2:c.1110+5G>A | NP_001341536.1:n.1110+5G>A | |
| NM_001354608.2:c.1005+5G>A | NP_001341537.1:n.1005+5G>A | |
| NM_198158.3:c.840+5G>A | NP_937801.1:n.840+5G>A | |
| NM_198159.3:c.1161+5G>A | NP_937802.1:n.1161+5G>A | |
| NM_198177.3:c.1113+5G>A | NP_937820.1:n.1113+5G>A | |
| NM_198178.3:c.672+5G>A | NP_937821.2:n.672+5G>A | |
| NM_000248.4:c.858+5G>A MANE Plus Clinical | NP_000239.1:n.858+5G>A | |
| NM_006722.3:c.1158+5G>A | NP_006713.1:n.1158+5G>A |