Linked Data
ClinVar Variation Id:
305066
ClinVar RCV Id:
RCV000336607
dbSNP Id:
rs548368196
ExAC:
11:61136112 A / G
gnomAD v2:
11-61136112-A-G
gnomAD v3:
11-61368640-A-G
gnomAD v4:
11-61368640-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61368640A>G , CM000673.2:g.61368640A>G | GRCh38 |
| NC_000011.9:g.61136112A>G , CM000673.1:g.61136112A>G | GRCh37 |
| NC_000011.8:g.60892688A>G | NCBI36 |
| NG_032581.1:g.11640A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.376+642A>G | ENSP00000508581.1:n.376+642A>G | |
| ENST00000507563.7:c.*765A>G | ENSP00000510363.1:n.*765A>G | |
| ENST00000542946.2:c.*2406A>G | ENSP00000445792.1:n.*2406A>G | |
| ENST00000543594.6:c.*631A>G | ENSP00000509354.1:n.*631A>G | |
| ENST00000685597.1:c.*183A>G | ENSP00000509403.1:n.*183A>G | |
| ENST00000686820.1:c.*167A>G | ENSP00000508587.1:n.*167A>G | |
| ENST00000688279.1:c.*167A>G | ENSP00000510422.1:n.*167A>G | |
| ENST00000688430.1:n.346A>G | ||
| ENST00000689076.1:c.*1808A>G | ENSP00000508469.1:n.*1808A>G | |
| ENST00000689882.1:c.*2471A>G | ENSP00000509351.1:n.*2471A>G | |
| ENST00000691720.1:c.376+642A>G | ENSP00000509146.1:n.376+642A>G | |
| ENST00000692219.1:c.420A>G | ENSP00000510149.1:p.Arg140= | |
| ENST00000692667.1:c.*183A>G | ENSP00000510180.1:n.*183A>G | |
| ENST00000692785.1:c.*484A>G | ENSP00000509310.1:n.*484A>G | |
| ENST00000693557.1:c.*471A>G | ENSP00000508970.1:n.*471A>G | |
| ENST00000278826.11:c.420A>G MANE Select | ENSP00000278826.5:p.Arg140= | |
| ENST00000278826.10:c.420A>G | ENSP00000278826.5:p.Arg140= | |
| ENST00000381787.2:c.246A>G | ENSP00000371206.2:p.Arg82= | |
| ENST00000423772.6:n.1939A>G | ||
| ENST00000539776.1:n.1064A>G | ||
| ENST00000543833.1:n.95-132A>G | ||
| ENST00000545420.1:n.444A>G | ||
| NM_016464.4:c.420A>G | NP_057548.1:p.Arg140= | |
| NR_028473.1:n.862A>G | ||
| XM_006718586.1:c.417A>G | XP_006718649.1:p.Arg139= | |
| XM_006718588.2:c.246A>G | XP_006718651.1:p.Arg82= | |
| XM_011545098.1:c.376+642A>G | XP_011543400.1:n.376+642A>G | |
| XM_011545099.1:c.376+642A>G | XP_011543401.1:n.376+642A>G | |
| XM_011545100.1:c.376+642A>G | XP_011543402.1:n.376+642A>G | |
| XR_949965.1:n.1070+642A>G | ||
| XR_949966.1:n.1070+642A>G | ||
| NM_001330281.1:c.246A>G | NP_001317210.1:p.Arg82= | |
| XM_006718585.3:c.*484A>G | XP_006718648.1:n.*484A>G | |
| XM_006718586.2:c.417A>G | XP_006718649.1:p.Arg139= | |
| XM_011545098.2:c.376+642A>G | XP_011543400.1:n.376+642A>G | |
| XM_011545099.2:c.376+642A>G | XP_011543401.1:n.376+642A>G | |
| XM_017017917.1:c.300+2424A>G | XP_016873406.1:n.300+2424A>G | |
| XR_949964.3:n.1114A>G | ||
| XR_949966.2:n.1070+642A>G | ||
| NM_016464.5:c.420A>G MANE Select | NP_057548.1:p.Arg140= | |
| NM_001330281.2:c.246A>G | NP_001317210.1:p.Arg82= | |
| NR_028473.2:n.489A>G |