Linked Data
ClinVar Variation Id:
1697581
ClinVar RCV Id:
RCV002268865
dbSNP Id:
rs780050293
ExAC:
3:70001077 A / T
gnomAD v2:
3-70001077-A-T
gnomAD v3:
3-69951926-A-T
gnomAD v4:
3-69951926-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69951926A>T , CM000665.2:g.69951926A>T | GRCh38 |
| NC_000003.11:g.70001077A>T , CM000665.1:g.70001077A>T | GRCh37 |
| NC_000003.10:g.70083767A>T | NCBI36 |
| NG_011631.1:g.217445A>T , LRG_776:g.217445A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.889+40A>T | ENSP00000324443.5:n.889+40A>T | |
| ENST00000687384.1:c.886+40A>T | ENSP00000510225.1:n.886+40A>T | |
| ENST00000689390.1:n.1111+40A>T | ||
| ENST00000693031.1:c.862+40A>T | ENSP00000509845.1:n.862+40A>T | |
| ENST00000693549.1:c.889+40A>T | ENSP00000509358.1:n.889+40A>T | |
| ENST00000314589.10:c.889+40A>T | ENSP00000324443.5:n.889+40A>T | |
| ENST00000352241.9:c.955+40A>T MANE Select | ENSP00000295600.8:n.955+40A>T | |
| ENST00000394351.9:c.634+40A>T MANE Plus Clinical | ENSP00000377880.3:n.634+40A>T | |
| ENST00000448226.9:c.934+40A>T | ENSP00000391803.3:n.934+40A>T | |
| ENST00000642352.1:c.937+40A>T | ENSP00000494105.1:n.937+40A>T | |
| ENST00000314557.10:c.616+40A>T | ENSP00000324246.6:n.616+40A>T | |
| ENST00000314589.9:c.889+40A>T | ENSP00000324443.5:n.889+40A>T | |
| ENST00000328528.10:c.934+40A>T | ENSP00000327867.6:n.934+40A>T | |
| ENST00000352241.8:c.937+40A>T | ENSP00000295600.7:n.937+40A>T | |
| ENST00000394351.7:c.634+40A>T | ENSP00000377880.3:n.634+40A>T | |
| ENST00000448226.6:c.955+40A>T | ENSP00000391803.2:n.955+40A>T | |
| ENST00000451708.5:c.907+40A>T | ENSP00000398639.1:n.907+40A>T | |
| ENST00000472437.5:c.781+40A>T | ENSP00000418845.1:n.781+40A>T | |
| ENST00000478490.5:c.*281+40A>T | ENSP00000433487.1:n.*281+40A>T | |
| ENST00000531774.1:c.448+40A>T | ENSP00000435909.1:n.448+40A>T | |
| NM_000248.3:c.634+40A>T , LRG_776t1:c.634+40A>T | NP_000239.1:n.634+40A>T | |
| NM_001184967.1:c.781+40A>T | NP_001171896.1:n.781+40A>T | |
| NM_006722.2:c.934+40A>T | NP_006713.1:n.934+40A>T | |
| NM_198158.2:c.616+40A>T | NP_937801.1:n.616+40A>T | |
| NM_198159.2:c.937+40A>T | NP_937802.1:n.937+40A>T | |
| NM_198177.2:c.889+40A>T | NP_937820.1:n.889+40A>T | |
| NM_198178.2:c.448+40A>T | NP_937821.2:n.448+40A>T | |
| XM_005264754.1:c.955+40A>T | XP_005264811.1:n.955+40A>T | |
| XM_005264755.2:c.907+40A>T | XP_005264812.1:n.907+40A>T | |
| XM_006713164.2:c.799+40A>T | XP_006713227.1:n.799+40A>T | |
| XM_011533722.1:c.952+40A>T | XP_011532024.1:n.952+40A>T | |
| XM_011533723.1:c.904+40A>T | XP_011532025.1:n.904+40A>T | |
| XM_011533724.1:c.799+40A>T | XP_011532026.1:n.799+40A>T | |
| XM_011533725.1:c.787+40A>T | XP_011532027.1:n.787+40A>T | |
| XM_011533726.1:c.769+40A>T | XP_011532028.1:n.769+40A>T | |
| NM_001354604.1:c.955+40A>T | NP_001341533.1:n.955+40A>T | |
| NM_001354605.1:c.952+40A>T | NP_001341534.1:n.952+40A>T | |
| NM_001354606.1:c.934+40A>T | NP_001341535.1:n.934+40A>T | |
| NM_001354607.1:c.886+40A>T | NP_001341536.1:n.886+40A>T | |
| NM_001354608.1:c.781+40A>T | NP_001341537.1:n.781+40A>T | |
| NM_001184967.2:c.781+40A>T | NP_001171896.1:n.781+40A>T | |
| NM_001354604.2:c.955+40A>T MANE Select | NP_001341533.1:n.955+40A>T | |
| NM_001354605.2:c.952+40A>T | NP_001341534.1:n.952+40A>T | |
| NM_001354606.2:c.934+40A>T | NP_001341535.1:n.934+40A>T | |
| NM_001354607.2:c.886+40A>T | NP_001341536.1:n.886+40A>T | |
| NM_001354608.2:c.781+40A>T | NP_001341537.1:n.781+40A>T | |
| NM_198158.3:c.616+40A>T | NP_937801.1:n.616+40A>T | |
| NM_198159.3:c.937+40A>T | NP_937802.1:n.937+40A>T | |
| NM_198177.3:c.889+40A>T | NP_937820.1:n.889+40A>T | |
| NM_198178.3:c.448+40A>T | NP_937821.2:n.448+40A>T | |
| NM_000248.4:c.634+40A>T MANE Plus Clinical | NP_000239.1:n.634+40A>T | |
| NM_006722.3:c.934+40A>T | NP_006713.1:n.934+40A>T |