Linked Data
ClinVar Variation Id:
473070
dbSNP Id:
rs201156715
ExAC:
8:38103783 C / G
gnomAD v2:
8-38103783-C-G
gnomAD v3:
8-38246265-C-G
gnomAD v4:
8-38246265-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38246265C>G , CM000670.2:g.38246265C>G | GRCh38 |
| NC_000008.10:g.38103783C>G , CM000670.1:g.38103783C>G | GRCh37 |
| NC_000008.9:g.38222940C>G | NCBI36 |
| NG_033875.1:g.19775C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1090C>G MANE Select | ENSP00000380352.2:p.Gln364Glu | |
| ENST00000397166.6:c.1090C>G | ENSP00000380352.2:p.Gln364Glu | |
| ENST00000520272.6:c.1090C>G | ENSP00000429932.2:p.Gln364Glu | |
| ENST00000527415.5:c.*450C>G | ENSP00000432024.1:n.*450C>G | |
| ENST00000528504.5:n.82C>G | ||
| ENST00000528888.5:n.663C>G | ||
| ENST00000532106.1:c.468C>G | ||
| NM_001164232.1:c.1090C>G | NP_001157704.1:p.Gln364Glu | |
| NM_015214.2:c.1090C>G | NP_056029.2:p.Gln364Glu | |
| XM_005273454.1:c.1090C>G | XP_005273511.1:p.Gln364Glu | |
| XM_005273455.2:c.1090C>G | XP_005273512.1:p.Gln364Glu | |
| XM_005273456.2:c.1000C>G | XP_005273513.1:p.Gln334Glu | |
| XM_005273457.2:c.-19+315C>G | XP_005273514.1:n.-19+315C>G | |
| XM_011544455.1:c.1090C>G | XP_011542757.1:p.Gln364Glu | |
| XM_011544456.1:c.1090C>G | XP_011542758.1:p.Gln364Glu | |
| XR_247123.1:n.1582+315C>G | ||
| XR_949383.1:n.1615C>G | ||
| XR_949384.1:n.1615C>G | ||
| XR_949385.1:n.1615C>G | ||
| XR_949386.1:n.1615C>G | ||
| XR_949387.1:n.1615C>G | ||
| NM_001362911.1:c.1090C>G | NP_001349840.1:p.Gln364Glu | |
| NM_001362912.1:c.1090C>G | NP_001349841.1:p.Gln364Glu | |
| NM_001362913.1:c.1000C>G | NP_001349842.1:p.Gln334Glu | |
| NM_001362914.1:c.1090C>G | NP_001349843.1:p.Gln364Glu | |
| NR_156416.1:n.1434+315C>G | ||
| NR_156417.1:n.1434+315C>G | ||
| XM_011544456.2:c.1090C>G | XP_011542758.1:p.Gln364Glu | |
| XM_017013255.2:c.-19+315C>G | XP_016868744.1:n.-19+315C>G | |
| XR_001745504.2:n.1373C>G | ||
| XR_001745506.2:n.1340+315C>G | ||
| NM_001362911.2:c.1090C>G | NP_001349840.1:p.Gln364Glu | |
| NM_001362912.2:c.1090C>G | NP_001349841.1:p.Gln364Glu | |
| NM_015214.3:c.1090C>G MANE Select | NP_056029.2:p.Gln364Glu | |
| NR_156417.2:n.1340+315C>G | ||
| NM_001164232.2:c.1090C>G | NP_001157704.1:p.Gln364Glu | |
| NM_001362913.2:c.1000C>G | NP_001349842.1:p.Gln334Glu | |
| NM_001362914.2:c.1090C>G | NP_001349843.1:p.Gln364Glu | |
| NR_156416.2:n.1340+315C>G |