Linked Data
ClinVar Variation Id:
54248
ClinVar RCV Id:
RCV001354245
dbSNP Id:
rs80357057
ExAC:
17:41246130 T / C
gnomAD v2:
17-41246130-T-C
gnomAD v3:
17-43094113-T-C
gnomAD v4:
17-43094113-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094113T>C , CM000679.2:g.43094113T>C | GRCh38 |
| NC_000017.10:g.41246130T>C , CM000679.1:g.41246130T>C | GRCh37 |
| NC_000017.9:g.38499656T>C | NCBI36 |
| NG_005905.2:g.123871A>G , LRG_292:g.123871A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1482A>G | ||
| ENST00000461574.2:c.1418A>G | ENSP00000417241.2:p.Asn473Ser | |
| ENST00000470026.6:c.1418A>G | ENSP00000419274.2:p.Asn473Ser | |
| ENST00000473961.6:c.1292A>G | ENSP00000420201.2:p.Asn431Ser | |
| ENST00000476777.6:c.1415A>G | ENSP00000417554.2:p.Asn472Ser | |
| ENST00000477152.6:c.1340A>G | ENSP00000419988.2:p.Asn447Ser | |
| ENST00000478531.6:c.784+631A>G | ENSP00000420412.2:n.784+631A>G | |
| ENST00000489037.2:c.1340A>G | ENSP00000420781.2:p.Asn447Ser | |
| ENST00000493919.6:c.646+631A>G | ENSP00000418819.2:n.646+631A>G | |
| ENST00000494123.6:c.1418A>G | ENSP00000419103.2:p.Asn473Ser | |
| ENST00000497488.2:c.530A>G | ENSP00000418986.2:p.Asn177Ser | |
| ENST00000618469.2:c.1418A>G | ENSP00000478114.2:p.Asn473Ser | |
| ENST00000634433.2:c.1295A>G | ENSP00000489431.2:p.Asn432Ser | |
| ENST00000644379.2:c.1418A>G | ENSP00000496570.2:p.Asn473Ser | |
| ENST00000644555.2:c.646+631A>G | ENSP00000494614.2:n.646+631A>G | |
| ENST00000652672.2:c.1277A>G | ENSP00000498906.2:p.Asn426Ser | |
| ENST00000484087.6:c.664+631A>G | ENSP00000419481.2:n.664+631A>G | |
| ENST00000700182.1:c.706+631A>G | ENSP00000514849.1:n.706+631A>G | |
| ENST00000700183.1:c.*1426A>G | ENSP00000514850.1:n.*1426A>G | |
| ENST00000357654.9:c.1418A>G MANE Select | ENSP00000350283.3:p.Asn473Ser | |
| ENST00000471181.7:c.1418A>G | ENSP00000418960.2:p.Asn473Ser | |
| ENST00000652672.1:c.1277A>G | ENSP00000498906.1:p.Asn426Ser | |
| ENST00000352993.7:c.670+1733A>G | ENSP00000312236.5:n.670+1733A>G | |
| ENST00000354071.7:c.1418A>G | ENSP00000326002.7:p.Asn473Ser | |
| ENST00000357654.7:c.1418A>G | ENSP00000350283.3:p.Asn473Ser | |
| ENST00000412061.3:c.769A>G | ||
| ENST00000461221.5:c.*1201A>G | ENSP00000418548.1:n.*1201A>G | |
| ENST00000468300.5:c.787+631A>G | ENSP00000417148.1:n.787+631A>G | |
| ENST00000470026.5:c.1418A>G | ENSP00000419274.1:p.Asn473Ser | |
| ENST00000471181.6:c.1418A>G | ENSP00000418960.2:p.Asn473Ser | |
| ENST00000477152.5:c.1340A>G | ENSP00000419988.1:p.Asn447Ser | |
| ENST00000478531.5:c.784+631A>G | ENSP00000420412.1:n.784+631A>G | |
| ENST00000484087.5:c.409+631A>G | ENSP00000419481.1:n.409+631A>G | |
| ENST00000487825.5:c.412+631A>G | ENSP00000418212.1:n.412+631A>G | |
| ENST00000491747.6:c.787+631A>G | ENSP00000420705.2:n.787+631A>G | |
| ENST00000492859.5:c.*1354A>G | ENSP00000420253.1:n.*1354A>G | |
| ENST00000493795.5:c.1277A>G | ENSP00000418775.1:p.Asn426Ser | |
| ENST00000493919.5:c.646+631A>G | ENSP00000418819.1:n.646+631A>G | |
| ENST00000494123.5:c.1418A>G | ENSP00000419103.1:p.Asn473Ser | |
| ENST00000497488.1:c.530A>G | ENSP00000418986.1:p.Asn177Ser | |
| ENST00000586385.5:c.5-30162A>G | ENSP00000465818.1:n.5-30162A>G | |
| ENST00000591534.5:c.-43-19592A>G | ENSP00000467329.1:n.-43-19592A>G | |
| ENST00000591849.5:c.-99+31158A>G | ENSP00000465347.1:n.-99+31158A>G | |
| ENST00000634433.1:c.1295A>G | ENSP00000489431.1:p.Asn432Ser | |
| NM_007294.3:c.1418A>G , LRG_292t1:c.1418A>G | NP_009225.1:p.Asn473Ser | |
| NM_007297.3:c.1277A>G | NP_009228.2:p.Asn426Ser | |
| NM_007298.3:c.787+631A>G | NP_009229.2:n.787+631A>G | |
| NM_007299.3:c.787+631A>G | NP_009230.2:n.787+631A>G | |
| NM_007300.3:c.1418A>G | NP_009231.2:p.Asn473Ser | |
| NR_027676.1:n.1554A>G | ||
| NM_007294.4:c.1418A>G MANE Select | NP_009225.1:p.Asn473Ser | |
| NM_007297.4:c.1277A>G | NP_009228.2:p.Asn426Ser | |
| NM_007299.4:c.787+631A>G | NP_009230.2:n.787+631A>G | |
| NM_007300.4:c.1418A>G | NP_009231.2:p.Asn473Ser | |
| NR_027676.2:n.1595A>G |