Linked Data
ClinVar Variation Id:
54300
dbSNP Id:
rs80357493
gnomAD v2:
17-41245967-C-G
gnomAD v3:
17-43093950-C-G
gnomAD v4:
17-43093950-C-G
MyVariant Identifiers:
chr17:g.41245967C>G (hg19)
chr17:g.41245967_41245969delinsGTT (hg19)
chr17:g.43093950C>G (hg38)
PubMed:
PMID:16518693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093950C>G , CM000679.2:g.43093950C>G | GRCh38 |
| NC_000017.10:g.41245967C>G , CM000679.1:g.41245967C>G | GRCh37 |
| NC_000017.9:g.38499493C>G | NCBI36 |
| NG_005905.2:g.124034G>C , LRG_292:g.124034G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1645G>C | ||
| ENST00000461574.2:c.1581G>C | ENSP00000417241.2:p.Lys527Asn | |
| ENST00000470026.6:c.1581G>C | ENSP00000419274.2:p.Lys527Asn | |
| ENST00000473961.6:c.1455G>C | ENSP00000420201.2:p.Lys485Asn | |
| ENST00000476777.6:c.1578G>C | ENSP00000417554.2:p.Lys526Asn | |
| ENST00000477152.6:c.1503G>C | ENSP00000419988.2:p.Lys501Asn | |
| ENST00000478531.6:c.784+794G>C | ENSP00000420412.2:n.784+794G>C | |
| ENST00000489037.2:c.1503G>C | ENSP00000420781.2:p.Lys501Asn | |
| ENST00000493919.6:c.646+794G>C | ENSP00000418819.2:n.646+794G>C | |
| ENST00000494123.6:c.1581G>C | ENSP00000419103.2:p.Lys527Asn | |
| ENST00000497488.2:c.693G>C | ENSP00000418986.2:p.Lys231Asn | |
| ENST00000618469.2:c.1581G>C | ENSP00000478114.2:p.Lys527Asn | |
| ENST00000634433.2:c.1458G>C | ENSP00000489431.2:p.Lys486Asn | |
| ENST00000644379.2:c.1581G>C | ENSP00000496570.2:p.Lys527Asn | |
| ENST00000644555.2:c.646+794G>C | ENSP00000494614.2:n.646+794G>C | |
| ENST00000652672.2:c.1440G>C | ENSP00000498906.2:p.Lys480Asn | |
| ENST00000484087.6:c.664+794G>C | ENSP00000419481.2:n.664+794G>C | |
| ENST00000700182.1:c.706+794G>C | ENSP00000514849.1:n.706+794G>C | |
| ENST00000357654.9:c.1581G>C MANE Select | ENSP00000350283.3:p.Lys527Asn | |
| ENST00000471181.7:c.1581G>C | ENSP00000418960.2:p.Lys527Asn | |
| ENST00000652672.1:c.1440G>C | ENSP00000498906.1:p.Lys480Asn | |
| ENST00000352993.7:c.670+1896G>C | ENSP00000312236.5:n.670+1896G>C | |
| ENST00000354071.7:c.1581G>C | ENSP00000326002.7:p.Lys527Asn | |
| ENST00000357654.7:c.1581G>C | ENSP00000350283.3:p.Lys527Asn | |
| ENST00000412061.3:c.932G>C | ||
| ENST00000461221.5:c.*1364G>C | ENSP00000418548.1:n.*1364G>C | |
| ENST00000468300.5:c.787+794G>C | ENSP00000417148.1:n.787+794G>C | |
| ENST00000470026.5:c.1581G>C | ENSP00000419274.1:p.Lys527Asn | |
| ENST00000471181.6:c.1581G>C | ENSP00000418960.2:p.Lys527Asn | |
| ENST00000477152.5:c.1503G>C | ENSP00000419988.1:p.Lys501Asn | |
| ENST00000478531.5:c.784+794G>C | ENSP00000420412.1:n.784+794G>C | |
| ENST00000484087.5:c.409+794G>C | ENSP00000419481.1:n.409+794G>C | |
| ENST00000487825.5:c.412+794G>C | ENSP00000418212.1:n.412+794G>C | |
| ENST00000491747.6:c.787+794G>C | ENSP00000420705.2:n.787+794G>C | |
| ENST00000493795.5:c.1440G>C | ENSP00000418775.1:p.Lys480Asn | |
| ENST00000493919.5:c.646+794G>C | ENSP00000418819.1:n.646+794G>C | |
| ENST00000586385.5:c.5-29999G>C | ENSP00000465818.1:n.5-29999G>C | |
| ENST00000591534.5:c.-43-19429G>C | ENSP00000467329.1:n.-43-19429G>C | |
| ENST00000591849.5:c.-99+31321G>C | ENSP00000465347.1:n.-99+31321G>C | |
| ENST00000634433.1:c.1458G>C | ENSP00000489431.1:p.Lys486Asn | |
| NM_007294.3:c.1581G>C , LRG_292t1:c.1581G>C | NP_009225.1:p.Lys527Asn | |
| NM_007297.3:c.1440G>C | NP_009228.2:p.Lys480Asn | |
| NM_007298.3:c.787+794G>C | NP_009229.2:n.787+794G>C | |
| NM_007299.3:c.787+794G>C | NP_009230.2:n.787+794G>C | |
| NM_007300.3:c.1581G>C | NP_009231.2:p.Lys527Asn | |
| NR_027676.1:n.1717G>C | ||
| NM_007294.4:c.1581G>C MANE Select | NP_009225.1:p.Lys527Asn | |
| NM_007297.4:c.1440G>C | NP_009228.2:p.Lys480Asn | |
| NM_007299.4:c.787+794G>C | NP_009230.2:n.787+794G>C | |
| NM_007300.4:c.1581G>C | NP_009231.2:p.Lys527Asn | |
| NR_027676.2:n.1758G>C |