Linked Data
ClinVar Variation Id:
451477
dbSNP Id:
rs368915509
ExAC:
3:70008546 A / G
gnomAD v2:
3-70008546-A-G
gnomAD v3:
3-69959395-A-G
gnomAD v4:
3-69959395-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69959395A>G , CM000665.2:g.69959395A>G | GRCh38 |
| NC_000003.11:g.70008546A>G , CM000665.1:g.70008546A>G | GRCh37 |
| NC_000003.10:g.70091236A>G | NCBI36 |
| NG_011631.1:g.224914A>G , LRG_776:g.224914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1088A>G | ENSP00000324443.5:p.Asn363Ser | |
| ENST00000687384.1:c.1085A>G | ENSP00000510225.1:p.Asn362Ser | |
| ENST00000689390.1:n.1310A>G | ||
| ENST00000693031.1:c.1061A>G | ENSP00000509845.1:p.Asn354Ser | |
| ENST00000693549.1:c.1088A>G | ENSP00000509358.1:p.Asn363Ser | |
| ENST00000314589.10:c.1088A>G | ENSP00000324443.5:p.Asn363Ser | |
| ENST00000352241.9:c.1154A>G MANE Select | ENSP00000295600.8:p.Asn385Ser | |
| ENST00000394351.9:c.833A>G MANE Plus Clinical | ENSP00000377880.3:p.Asn278Ser | |
| ENST00000448226.9:c.1133A>G | ENSP00000391803.3:p.Asn378Ser | |
| ENST00000642352.1:c.1136A>G | ENSP00000494105.1:p.Asn379Ser | |
| ENST00000314557.10:c.815A>G | ENSP00000324246.6:p.Asn272Ser | |
| ENST00000314589.9:c.1088A>G | ENSP00000324443.5:p.Asn363Ser | |
| ENST00000328528.10:c.1133A>G | ENSP00000327867.6:p.Asn378Ser | |
| ENST00000352241.8:c.1136A>G | ENSP00000295600.7:p.Asn379Ser | |
| ENST00000394351.7:c.833A>G | ENSP00000377880.3:p.Asn278Ser | |
| ENST00000448226.6:c.1154A>G | ENSP00000391803.2:p.Asn385Ser | |
| ENST00000472437.5:c.980A>G | ENSP00000418845.1:p.Asn327Ser | |
| ENST00000478490.5:c.*480A>G | ENSP00000433487.1:n.*480A>G | |
| ENST00000531774.1:c.647A>G | ENSP00000435909.1:p.Asn216Ser | |
| NM_000248.3:c.833A>G , LRG_776t1:c.833A>G | NP_000239.1:p.Asn278Ser | |
| NM_001184967.1:c.980A>G | NP_001171896.1:p.Asn327Ser | |
| NM_006722.2:c.1133A>G | NP_006713.1:p.Asn378Ser | |
| NM_198158.2:c.815A>G | NP_937801.1:p.Asn272Ser | |
| NM_198159.2:c.1136A>G | NP_937802.1:p.Asn379Ser | |
| NM_198177.2:c.1088A>G | NP_937820.1:p.Asn363Ser | |
| NM_198178.2:c.647A>G | NP_937821.2:p.Asn216Ser | |
| XM_005264754.1:c.1154A>G | XP_005264811.1:p.Asn385Ser | |
| XM_005264755.2:c.1106A>G | XP_005264812.1:p.Asn369Ser | |
| XM_006713164.2:c.998A>G | XP_006713227.1:p.Asn333Ser | |
| XM_011533722.1:c.1151A>G | XP_011532024.1:p.Asn384Ser | |
| XM_011533723.1:c.1103A>G | XP_011532025.1:p.Asn368Ser | |
| XM_011533724.1:c.998A>G | XP_011532026.1:p.Asn333Ser | |
| XM_011533725.1:c.986A>G | XP_011532027.1:p.Asn329Ser | |
| XM_011533726.1:c.968A>G | XP_011532028.1:p.Asn323Ser | |
| NM_001354604.1:c.1154A>G | NP_001341533.1:p.Asn385Ser | |
| NM_001354605.1:c.1151A>G | NP_001341534.1:p.Asn384Ser | |
| NM_001354606.1:c.1133A>G | NP_001341535.1:p.Asn378Ser | |
| NM_001354607.1:c.1085A>G | NP_001341536.1:p.Asn362Ser | |
| NM_001354608.1:c.980A>G | NP_001341537.1:p.Asn327Ser | |
| NM_001184967.2:c.980A>G | NP_001171896.1:p.Asn327Ser | |
| NM_001354604.2:c.1154A>G MANE Select | NP_001341533.1:p.Asn385Ser | |
| NM_001354605.2:c.1151A>G | NP_001341534.1:p.Asn384Ser | |
| NM_001354606.2:c.1133A>G | NP_001341535.1:p.Asn378Ser | |
| NM_001354607.2:c.1085A>G | NP_001341536.1:p.Asn362Ser | |
| NM_001354608.2:c.980A>G | NP_001341537.1:p.Asn327Ser | |
| NM_198158.3:c.815A>G | NP_937801.1:p.Asn272Ser | |
| NM_198159.3:c.1136A>G | NP_937802.1:p.Asn379Ser | |
| NM_198177.3:c.1088A>G | NP_937820.1:p.Asn363Ser | |
| NM_198178.3:c.647A>G | NP_937821.2:p.Asn216Ser | |
| NM_000248.4:c.833A>G MANE Plus Clinical | NP_000239.1:p.Asn278Ser | |
| NM_006722.3:c.1133A>G | NP_006713.1:p.Asn378Ser |