Linked Data
ClinVar Variation Id:
279579
dbSNP Id:
rs200404815
ExAC:
11:103270608 A / G
gnomAD v2:
11-103270608-A-G
gnomAD v3:
11-103399880-A-G
gnomAD v4:
11-103399880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103399880A>G , CM000673.2:g.103399880A>G | GRCh38 |
| NC_000011.9:g.103270608A>G , CM000673.1:g.103270608A>G | GRCh37 |
| NC_000011.8:g.102775818A>G | NCBI36 |
| NG_016423.1:g.295449A>G | |
| NG_016423.2:g.295450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.12387+8A>G MANE Plus Clinical | ENSP00000497174.1:n.12387+8A>G | |
| ENST00000375735.7:c.12366+8A>G MANE Select | ENSP00000364887.2:n.12366+8A>G | |
| ENST00000650373.1:c.12387+8A>G | ENSP00000497174.1:n.12387+8A>G | |
| ENST00000334267.11:c.2206-36063A>G | ENSP00000334021.7:n.2206-36063A>G | |
| ENST00000375735.6:c.12366+8A>G | ENSP00000364887.2:n.12366+8A>G | |
| ENST00000398093.7:c.12387+8A>G | ENSP00000381167.3:n.12387+8A>G | |
| ENST00000528670.5:c.1549+8A>G | ENSP00000433451.1:n.1549+8A>G | |
| ENST00000533197.1:c.118-36063A>G | ENSP00000436736.1:n.118-36063A>G | |
| NM_001080463.1:c.12387+8A>G | NP_001073932.1:n.12387+8A>G | |
| NM_001377.2:c.12366+8A>G | NP_001368.2:n.12366+8A>G | |
| XM_006718903.2:c.12345+8A>G | XP_006718966.1:n.12345+8A>G | |
| XM_017018291.1:c.12157-36063A>G | XP_016873780.1:n.12157-36063A>G | |
| XM_017018292.1:c.11748+8A>G | XP_016873781.1:n.11748+8A>G | |
| NM_001377.3:c.12366+8A>G MANE Select | NP_001368.2:n.12366+8A>G | |
| NM_001080463.2:c.12387+8A>G MANE Plus Clinical | NP_001073932.1:n.12387+8A>G |