Linked Data
ClinVar Variation Id:
29792
ClinVar RCV Id:
RCV000022661
RCV000129682
RCV000222278
RCV000627790
RCV000484916
RCV001195106
RCV002247378
RCV001535706
RCV002490402
dbSNP Id:
rs149617956
ExAC:
3:70014091 G / A
gnomAD v2:
3-70014091-G-A
gnomAD v3:
3-69964940-G-A
gnomAD v4:
3-69964940-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964940G>A , CM000665.2:g.69964940G>A | GRCh38 |
| NC_000003.11:g.70014091G>A , CM000665.1:g.70014091G>A | GRCh37 |
| NC_000003.10:g.70096781G>A | NCBI36 |
| NG_011631.1:g.230459G>A , LRG_776:g.230459G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1207G>A | ENSP00000324443.5:p.Glu403Lys | |
| ENST00000687384.1:c.1204G>A | ENSP00000510225.1:p.Glu402Lys | |
| ENST00000689390.1:n.1429G>A | ||
| ENST00000693031.1:c.1180G>A | ENSP00000509845.1:p.Glu394Lys | |
| ENST00000693549.1:c.*18G>A | ENSP00000509358.1:n.*18G>A | |
| ENST00000314589.10:c.1207G>A | ENSP00000324443.5:p.Glu403Lys | |
| ENST00000352241.9:c.1273G>A MANE Select | ENSP00000295600.8:p.Glu425Lys | |
| ENST00000394351.9:c.952G>A MANE Plus Clinical | ENSP00000377880.3:p.Glu318Lys | |
| ENST00000448226.9:c.1252G>A | ENSP00000391803.3:p.Glu418Lys | |
| ENST00000642352.1:c.1255G>A | ENSP00000494105.1:p.Glu419Lys | |
| ENST00000314557.10:c.934G>A | ENSP00000324246.6:p.Glu312Lys | |
| ENST00000314589.9:c.1207G>A | ENSP00000324443.5:p.Glu403Lys | |
| ENST00000328528.10:c.1252G>A | ENSP00000327867.6:p.Glu418Lys | |
| ENST00000352241.8:c.1255G>A | ENSP00000295600.7:p.Glu419Lys | |
| ENST00000394351.7:c.952G>A | ENSP00000377880.3:p.Glu318Lys | |
| ENST00000448226.6:c.1273G>A | ENSP00000391803.2:p.Glu425Lys | |
| ENST00000472437.5:c.1099G>A | ENSP00000418845.1:p.Glu367Lys | |
| ENST00000478490.5:c.*599G>A | ENSP00000433487.1:n.*599G>A | |
| ENST00000531774.1:c.766G>A | ENSP00000435909.1:p.Glu256Lys | |
| NM_000248.3:c.952G>A , LRG_776t1:c.952G>A | NP_000239.1:p.Glu318Lys | |
| NM_001184967.1:c.1099G>A | NP_001171896.1:p.Glu367Lys | |
| NM_006722.2:c.1252G>A | NP_006713.1:p.Glu418Lys | |
| NM_198158.2:c.934G>A | NP_937801.1:p.Glu312Lys | |
| NM_198159.2:c.1255G>A | NP_937802.1:p.Glu419Lys | |
| NM_198177.2:c.1207G>A | NP_937820.1:p.Glu403Lys | |
| NM_198178.2:c.766G>A | NP_937821.2:p.Glu256Lys | |
| XM_005264754.1:c.1273G>A | XP_005264811.1:p.Glu425Lys | |
| XM_005264755.2:c.1225G>A | XP_005264812.1:p.Glu409Lys | |
| XM_006713164.2:c.1117G>A | XP_006713227.1:p.Glu373Lys | |
| XM_011533722.1:c.1270G>A | XP_011532024.1:p.Glu424Lys | |
| XM_011533723.1:c.1222G>A | XP_011532025.1:p.Glu408Lys | |
| XM_011533724.1:c.1117G>A | XP_011532026.1:p.Glu373Lys | |
| XM_011533725.1:c.1105G>A | XP_011532027.1:p.Glu369Lys | |
| XM_011533726.1:c.1087G>A | XP_011532028.1:p.Glu363Lys | |
| NM_001354604.1:c.1273G>A | NP_001341533.1:p.Glu425Lys | |
| NM_001354605.1:c.1270G>A | NP_001341534.1:p.Glu424Lys | |
| NM_001354606.1:c.1252G>A | NP_001341535.1:p.Glu418Lys | |
| NM_001354607.1:c.1204G>A | NP_001341536.1:p.Glu402Lys | |
| NM_001354608.1:c.1099G>A | NP_001341537.1:p.Glu367Lys | |
| NM_001184967.2:c.1099G>A | NP_001171896.1:p.Glu367Lys | |
| NM_001354604.2:c.1273G>A MANE Select | NP_001341533.1:p.Glu425Lys | |
| NM_001354605.2:c.1270G>A | NP_001341534.1:p.Glu424Lys | |
| NM_001354606.2:c.1252G>A | NP_001341535.1:p.Glu418Lys | |
| NM_001354607.2:c.1204G>A | NP_001341536.1:p.Glu402Lys | |
| NM_001354608.2:c.1099G>A | NP_001341537.1:p.Glu367Lys | |
| NM_198158.3:c.934G>A | NP_937801.1:p.Glu312Lys | |
| NM_198159.3:c.1255G>A | NP_937802.1:p.Glu419Lys | |
| NM_198177.3:c.1207G>A | NP_937820.1:p.Glu403Lys | |
| NM_198178.3:c.766G>A | NP_937821.2:p.Glu256Lys | |
| NM_000248.4:c.952G>A MANE Plus Clinical | NP_000239.1:p.Glu318Lys | |
| NM_006722.3:c.1252G>A | NP_006713.1:p.Glu418Lys |