Linked Data
ClinVar Variation Id:
2943489
ClinVar RCV Id:
RCV003800607
dbSNP Id:
rs137904015
gnomAD v2:
3-70014000-A-T
gnomAD v4:
3-69964849-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964849A>T , CM000665.2:g.69964849A>T | GRCh38 |
| NC_000003.11:g.70014000A>T , CM000665.1:g.70014000A>T | GRCh37 |
| NC_000003.10:g.70096690A>T | NCBI36 |
| NG_011631.1:g.230368A>T , LRG_776:g.230368A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1116A>T | ENSP00000324443.5:p.Glu372Asp | |
| ENST00000687384.1:c.1113A>T | ENSP00000510225.1:p.Glu371Asp | |
| ENST00000689390.1:n.1338A>T | ||
| ENST00000693031.1:c.1089A>T | ENSP00000509845.1:p.Glu363Asp | |
| ENST00000693549.1:c.1114-65A>T | ENSP00000509358.1:n.1114-65A>T | |
| ENST00000314589.10:c.1116A>T | ENSP00000324443.5:p.Glu372Asp | |
| ENST00000352241.9:c.1182A>T MANE Select | ENSP00000295600.8:p.Glu394Asp | |
| ENST00000394351.9:c.861A>T MANE Plus Clinical | ENSP00000377880.3:p.Glu287Asp | |
| ENST00000448226.9:c.1161A>T | ENSP00000391803.3:p.Glu387Asp | |
| ENST00000642352.1:c.1164A>T | ENSP00000494105.1:p.Glu388Asp | |
| ENST00000314557.10:c.843A>T | ENSP00000324246.6:p.Glu281Asp | |
| ENST00000314589.9:c.1116A>T | ENSP00000324443.5:p.Glu372Asp | |
| ENST00000328528.10:c.1161A>T | ENSP00000327867.6:p.Glu387Asp | |
| ENST00000352241.8:c.1164A>T | ENSP00000295600.7:p.Glu388Asp | |
| ENST00000394351.7:c.861A>T | ENSP00000377880.3:p.Glu287Asp | |
| ENST00000448226.6:c.1182A>T | ENSP00000391803.2:p.Glu394Asp | |
| ENST00000472437.5:c.1008A>T | ENSP00000418845.1:p.Glu336Asp | |
| ENST00000478490.5:c.*508A>T | ENSP00000433487.1:n.*508A>T | |
| ENST00000531774.1:c.675A>T | ENSP00000435909.1:p.Glu225Asp | |
| NM_000248.3:c.861A>T , LRG_776t1:c.861A>T | NP_000239.1:p.Glu287Asp | |
| NM_001184967.1:c.1008A>T | NP_001171896.1:p.Glu336Asp | |
| NM_006722.2:c.1161A>T | NP_006713.1:p.Glu387Asp | |
| NM_198158.2:c.843A>T | NP_937801.1:p.Glu281Asp | |
| NM_198159.2:c.1164A>T | NP_937802.1:p.Glu388Asp | |
| NM_198177.2:c.1116A>T | NP_937820.1:p.Glu372Asp | |
| NM_198178.2:c.675A>T | NP_937821.2:p.Glu225Asp | |
| XM_005264754.1:c.1182A>T | XP_005264811.1:p.Glu394Asp | |
| XM_005264755.2:c.1134A>T | XP_005264812.1:p.Glu378Asp | |
| XM_006713164.2:c.1026A>T | XP_006713227.1:p.Glu342Asp | |
| XM_011533722.1:c.1179A>T | XP_011532024.1:p.Glu393Asp | |
| XM_011533723.1:c.1131A>T | XP_011532025.1:p.Glu377Asp | |
| XM_011533724.1:c.1026A>T | XP_011532026.1:p.Glu342Asp | |
| XM_011533725.1:c.1014A>T | XP_011532027.1:p.Glu338Asp | |
| XM_011533726.1:c.996A>T | XP_011532028.1:p.Glu332Asp | |
| NM_001354604.1:c.1182A>T | NP_001341533.1:p.Glu394Asp | |
| NM_001354605.1:c.1179A>T | NP_001341534.1:p.Glu393Asp | |
| NM_001354606.1:c.1161A>T | NP_001341535.1:p.Glu387Asp | |
| NM_001354607.1:c.1113A>T | NP_001341536.1:p.Glu371Asp | |
| NM_001354608.1:c.1008A>T | NP_001341537.1:p.Glu336Asp | |
| NM_001184967.2:c.1008A>T | NP_001171896.1:p.Glu336Asp | |
| NM_001354604.2:c.1182A>T MANE Select | NP_001341533.1:p.Glu394Asp | |
| NM_001354605.2:c.1179A>T | NP_001341534.1:p.Glu393Asp | |
| NM_001354606.2:c.1161A>T | NP_001341535.1:p.Glu387Asp | |
| NM_001354607.2:c.1113A>T | NP_001341536.1:p.Glu371Asp | |
| NM_001354608.2:c.1008A>T | NP_001341537.1:p.Glu336Asp | |
| NM_198158.3:c.843A>T | NP_937801.1:p.Glu281Asp | |
| NM_198159.3:c.1164A>T | NP_937802.1:p.Glu388Asp | |
| NM_198177.3:c.1116A>T | NP_937820.1:p.Glu372Asp | |
| NM_198178.3:c.675A>T | NP_937821.2:p.Glu225Asp | |
| NM_000248.4:c.861A>T MANE Plus Clinical | NP_000239.1:p.Glu287Asp | |
| NM_006722.3:c.1161A>T | NP_006713.1:p.Glu387Asp |