Linked Data
ClinVar Variation Id:
290331
dbSNP Id:
rs369084979
ExAC:
18:2796014 A / G
gnomAD v2:
18-2796014-A-G
gnomAD v3:
18-2796016-A-G
gnomAD v4:
18-2796016-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2796016A>G , CM000680.2:g.2796016A>G | GRCh38 |
| NC_000018.9:g.2796014A>G , CM000680.1:g.2796014A>G | GRCh37 |
| NC_000018.8:g.2786014A>G | NCBI36 |
| NG_031972.1:g.145129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685656.1:n.2094A>G | ||
| ENST00000686763.1:c.*1346A>G | ENSP00000510263.1:n.*1346A>G | |
| ENST00000686864.1:c.2478A>G | ||
| ENST00000688342.1:c.5655A>G | ENSP00000508422.1:p.Gln1885= | |
| ENST00000688708.1:n.4516A>G | ||
| ENST00000688964.1:n.2296A>G | ||
| ENST00000689034.1:n.3734A>G | ||
| ENST00000689800.1:n.1904A>G | ||
| ENST00000320876.11:c.5787A>G MANE Select | ENSP00000326603.7:p.Gln1929= | |
| ENST00000642953.1:c.689A>G | ||
| ENST00000645355.1:c.1832A>G | ||
| ENST00000320876.10:c.5787A>G | ENSP00000326603.6:p.Gln1929= | |
| ENST00000577880.5:c.4343A>G | ENSP00000463049.1:n.4343A>G | |
| ENST00000584897.5:c.3536A>G | ||
| NM_015295.2:c.5787A>G | NP_056110.2:p.Gln1929= | |
| XM_011525642.1:c.5787A>G | XP_011523944.1:p.Gln1929= | |
| XM_011525643.1:c.5787A>G | XP_011523945.1:p.Gln1929= | |
| XM_011525644.1:c.5403A>G | XP_011523946.1:p.Gln1801= | |
| XM_011525645.1:c.5223A>G | XP_011523947.1:p.Gln1741= | |
| XR_430039.1:n.5905A>G | ||
| XR_935054.1:n.5785A>G | ||
| XM_011525643.2:c.5787A>G | XP_011523945.1:p.Gln1929= | |
| XM_017025684.1:c.5223A>G | XP_016881173.1:p.Gln1741= | |
| XR_001753172.1:n.5976A>G | ||
| XR_001753173.1:n.5976A>G | ||
| XR_001753174.1:n.5905A>G | ||
| XR_001753175.1:n.5905A>G | ||
| XR_001753176.1:n.5785A>G | ||
| XR_001753177.1:n.5888A>G | ||
| XR_001753178.1:n.5825A>G | ||
| NM_015295.3:c.5787A>G MANE Select | NP_056110.2:p.Gln1929= |