Linked Data
ClinVar Variation Id:
1975262
ClinVar RCV Id:
RCV002755585
dbSNP Id:
rs982952310
gnomAD v2:
3-70014108-C-G
gnomAD v3:
3-69964957-C-G
gnomAD v4:
3-69964957-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964957C>G , CM000665.2:g.69964957C>G | GRCh38 |
| NC_000003.11:g.70014108C>G , CM000665.1:g.70014108C>G | GRCh37 |
| NC_000003.10:g.70096798C>G | NCBI36 |
| NG_011631.1:g.230476C>G , LRG_776:g.230476C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1224C>G | ENSP00000324443.5:p.Asn408Lys | |
| ENST00000687384.1:c.1221C>G | ENSP00000510225.1:p.Asn407Lys | |
| ENST00000689390.1:n.1446C>G | ||
| ENST00000693031.1:c.1197C>G | ENSP00000509845.1:p.Asn399Lys | |
| ENST00000693549.1:c.*35C>G | ENSP00000509358.1:n.*35C>G | |
| ENST00000314589.10:c.1224C>G | ENSP00000324443.5:p.Asn408Lys | |
| ENST00000352241.9:c.1290C>G MANE Select | ENSP00000295600.8:p.Asn430Lys | |
| ENST00000394351.9:c.969C>G MANE Plus Clinical | ENSP00000377880.3:p.Asn323Lys | |
| ENST00000448226.9:c.1269C>G | ENSP00000391803.3:p.Asn423Lys | |
| ENST00000642352.1:c.1272C>G | ENSP00000494105.1:p.Asn424Lys | |
| ENST00000314557.10:c.951C>G | ENSP00000324246.6:p.Asn317Lys | |
| ENST00000314589.9:c.1224C>G | ENSP00000324443.5:p.Asn408Lys | |
| ENST00000328528.10:c.1269C>G | ENSP00000327867.6:p.Asn423Lys | |
| ENST00000352241.8:c.1272C>G | ENSP00000295600.7:p.Asn424Lys | |
| ENST00000394351.7:c.969C>G | ENSP00000377880.3:p.Asn323Lys | |
| ENST00000448226.6:c.1290C>G | ENSP00000391803.2:p.Asn430Lys | |
| ENST00000472437.5:c.1116C>G | ENSP00000418845.1:p.Asn372Lys | |
| ENST00000478490.5:c.*616C>G | ENSP00000433487.1:n.*616C>G | |
| ENST00000531774.1:c.783C>G | ENSP00000435909.1:p.Asn261Lys | |
| NM_000248.3:c.969C>G , LRG_776t1:c.969C>G | NP_000239.1:p.Asn323Lys | |
| NM_001184967.1:c.1116C>G | NP_001171896.1:p.Asn372Lys | |
| NM_006722.2:c.1269C>G | NP_006713.1:p.Asn423Lys | |
| NM_198158.2:c.951C>G | NP_937801.1:p.Asn317Lys | |
| NM_198159.2:c.1272C>G | NP_937802.1:p.Asn424Lys | |
| NM_198177.2:c.1224C>G | NP_937820.1:p.Asn408Lys | |
| NM_198178.2:c.783C>G | NP_937821.2:p.Asn261Lys | |
| XM_005264754.1:c.1290C>G | XP_005264811.1:p.Asn430Lys | |
| XM_005264755.2:c.1242C>G | XP_005264812.1:p.Asn414Lys | |
| XM_006713164.2:c.1134C>G | XP_006713227.1:p.Asn378Lys | |
| XM_011533722.1:c.1287C>G | XP_011532024.1:p.Asn429Lys | |
| XM_011533723.1:c.1239C>G | XP_011532025.1:p.Asn413Lys | |
| XM_011533724.1:c.1134C>G | XP_011532026.1:p.Asn378Lys | |
| XM_011533725.1:c.1122C>G | XP_011532027.1:p.Asn374Lys | |
| XM_011533726.1:c.1104C>G | XP_011532028.1:p.Asn368Lys | |
| NM_001354604.1:c.1290C>G | NP_001341533.1:p.Asn430Lys | |
| NM_001354605.1:c.1287C>G | NP_001341534.1:p.Asn429Lys | |
| NM_001354606.1:c.1269C>G | NP_001341535.1:p.Asn423Lys | |
| NM_001354607.1:c.1221C>G | NP_001341536.1:p.Asn407Lys | |
| NM_001354608.1:c.1116C>G | NP_001341537.1:p.Asn372Lys | |
| NM_001184967.2:c.1116C>G | NP_001171896.1:p.Asn372Lys | |
| NM_001354604.2:c.1290C>G MANE Select | NP_001341533.1:p.Asn430Lys | |
| NM_001354605.2:c.1287C>G | NP_001341534.1:p.Asn429Lys | |
| NM_001354606.2:c.1269C>G | NP_001341535.1:p.Asn423Lys | |
| NM_001354607.2:c.1221C>G | NP_001341536.1:p.Asn407Lys | |
| NM_001354608.2:c.1116C>G | NP_001341537.1:p.Asn372Lys | |
| NM_198158.3:c.951C>G | NP_937801.1:p.Asn317Lys | |
| NM_198159.3:c.1272C>G | NP_937802.1:p.Asn424Lys | |
| NM_198177.3:c.1224C>G | NP_937820.1:p.Asn408Lys | |
| NM_198178.3:c.783C>G | NP_937821.2:p.Asn261Lys | |
| NM_000248.4:c.969C>G MANE Plus Clinical | NP_000239.1:p.Asn323Lys | |
| NM_006722.3:c.1269C>G | NP_006713.1:p.Asn423Lys |