Linked Data
ClinVar Variation Id:
1494698
ClinVar RCV Id:
RCV002015073
dbSNP Id:
rs149519095
ExAC:
2:242707146 A / G
gnomAD v2:
2-242707146-A-G
gnomAD v3:
2-241767731-A-G
gnomAD v4:
2-241767731-A-G
COSMIC:
COSM3972161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767731A>G , CM000664.2:g.241767731A>G | GRCh38 |
| NC_000002.11:g.242707146A>G , CM000664.1:g.242707146A>G | GRCh37 |
| NC_000002.10:g.242355819A>G | NCBI36 |
| NG_012012.1:g.38117A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1328A>G MANE Select | ENSP00000315351.4:p.Asn443Ser | |
| ENST00000321264.8:c.1328A>G | ENSP00000315351.4:p.Asn443Ser | |
| ENST00000400769.6:c.*78A>G | ENSP00000383580.2:n.*78A>G | |
| ENST00000403782.5:c.926A>G | ENSP00000384723.1:p.Asn309Ser | |
| ENST00000436747.5:c.*2564A>G | ENSP00000400212.1:n.*2564A>G | |
| ENST00000445308.1:c.724A>G | ||
| ENST00000468064.5:n.1218A>G | ||
| ENST00000470343.5:n.809A>G | ||
| ENST00000473126.1:n.527A>G | ||
| ENST00000486953.5:n.1152A>G | ||
| ENST00000610344.1:c.*172A>G | ENSP00000481906.1:n.*172A>G | |
| NM_001287249.1:c.926A>G | NP_001274178.1:p.Asn309Ser | |
| NM_152783.4:c.1328A>G | NP_689996.4:p.Asn443Ser | |
| NR_109778.1:n.1250A>G | ||
| XM_011511734.1:c.1448A>G | XP_011510036.1:p.Asn483Ser | |
| XM_011511735.1:c.1406A>G | XP_011510037.1:p.Asn469Ser | |
| XM_011511736.1:c.1370A>G | XP_011510038.1:p.Asn457Ser | |
| XM_011511744.1:c.*60A>G | XP_011510046.1:n.*60A>G | |
| XM_011511750.1:c.1240A>G | XP_011510052.1:p.Met414Val | |
| XM_011511754.1:c.887A>G | XP_011510056.1:p.Asn296Ser | |
| XM_011511755.1:c.878A>G | XP_011510057.1:p.Asn293Ser | |
| XM_011511756.1:c.875A>G | XP_011510058.1:p.Asn292Ser | |
| XR_923004.1:n.1960A>G | ||
| XR_923007.1:n.1670A>G | ||
| XR_923011.1:n.1771A>G | ||
| NM_001352824.1:c.767A>G | NP_001339753.1:p.Asn256Ser | |
| XM_011511734.2:c.1448A>G | XP_011510036.1:p.Asn483Ser | |
| XM_011511735.2:c.1406A>G | XP_011510037.1:p.Asn469Ser | |
| XM_011511736.2:c.1370A>G | XP_011510038.1:p.Asn457Ser | |
| XM_011511744.2:c.*60A>G | XP_011510046.1:n.*60A>G | |
| XM_011511750.3:c.1240A>G | XP_011510052.1:p.Met414Val | |
| XM_011511756.2:c.875A>G | XP_011510058.1:p.Asn292Ser | |
| XM_024453102.1:c.1220A>G | XP_024308870.1:p.Asn407Ser | |
| XR_001738918.2:n.1702A>G | ||
| XR_001738919.2:n.1636A>G | ||
| XR_923004.3:n.1959A>G | ||
| XR_923007.3:n.1669A>G | ||
| XR_923011.3:n.1770A>G | ||
| NM_152783.5:c.1328A>G MANE Select | NP_689996.4:p.Asn443Ser | |
| NM_001287249.2:c.926A>G | NP_001274178.1:p.Asn309Ser | |
| NM_001352824.2:c.767A>G | NP_001339753.1:p.Asn256Ser | |
| NR_109778.2:n.1199A>G |