Linked Data
ClinVar Variation Id:
315124
dbSNP Id:
rs767585930
ExAC:
14:97342358 A / G
gnomAD v2:
14-97342358-A-G
gnomAD v3:
14-96876021-A-G
gnomAD v4:
14-96876021-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96876021A>G , CM000676.2:g.96876021A>G | GRCh38 |
| NC_000014.8:g.97342358A>G , CM000676.1:g.97342358A>G | GRCh37 |
| NC_000014.7:g.96412111A>G | NCBI36 |
| NG_016293.1:g.83675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216639.8:c.1069-9A>G MANE Select | ENSP00000216639.3:n.1069-9A>G | |
| ENST00000553683.2:c.1069-9A>G | ENSP00000451412.2:n.1069-9A>G | |
| ENST00000555067.2:n.11114A>G | ||
| ENST00000679365.1:c.1063-12A>G | ENSP00000505882.1:n.1063-12A>G | |
| ENST00000679462.1:c.1095A>G | ENSP00000506011.1:p.Leu365= | |
| ENST00000679506.1:n.3131-12A>G | ||
| ENST00000679533.1:c.*842-9A>G | ENSP00000505873.1:n.*842-9A>G | |
| ENST00000679650.1:c.*758-9A>G | ENSP00000505156.1:n.*758-9A>G | |
| ENST00000679727.1:c.1063-9A>G | ENSP00000505844.1:n.1063-9A>G | |
| ENST00000679758.1:c.1068+15286A>G | ENSP00000505539.1:n.1068+15286A>G | |
| ENST00000679770.1:c.1069-9A>G | ENSP00000505214.1:n.1069-9A>G | |
| ENST00000679816.1:c.1069-9A>G | ENSP00000506525.1:n.1069-9A>G | |
| ENST00000679843.1:c.372-9A>G | ENSP00000506467.1:n.372-9A>G | |
| ENST00000679903.1:c.1069-18A>G | ENSP00000506022.1:n.1069-18A>G | |
| ENST00000679918.1:c.1069-9A>G | ENSP00000505439.1:n.1069-9A>G | |
| ENST00000679941.1:c.1068+15286A>G | ENSP00000506520.1:n.1068+15286A>G | |
| ENST00000679977.1:c.*315-9A>G | ENSP00000504897.1:n.*315-9A>G | |
| ENST00000680007.1:c.1069-9A>G | ENSP00000505683.1:n.1069-9A>G | |
| ENST00000680335.1:c.1068+15286A>G | ENSP00000505806.1:n.1068+15286A>G | |
| ENST00000680387.1:c.1069-12A>G | ENSP00000504908.1:n.1069-12A>G | |
| ENST00000680526.1:c.*587+15357A>G | ENSP00000505595.1:n.*587+15357A>G | |
| ENST00000680538.1:c.979-9A>G | ENSP00000505611.1:n.979-9A>G | |
| ENST00000680683.1:c.1069-9A>G | ENSP00000506334.1:n.1069-9A>G | |
| ENST00000680724.1:c.1069-9A>G | ENSP00000504891.1:n.1069-9A>G | |
| ENST00000680756.1:c.1069-9A>G | ENSP00000506648.1:n.1069-9A>G | |
| ENST00000680849.1:c.1066-9A>G | ENSP00000505602.1:n.1066-9A>G | |
| ENST00000680851.1:c.1069-5156A>G | ENSP00000505159.1:n.1069-5156A>G | |
| ENST00000680922.1:c.*212+15286A>G | ENSP00000506480.1:n.*212+15286A>G | |
| ENST00000680993.1:c.*432+15286A>G | ENSP00000505511.1:n.*432+15286A>G | |
| ENST00000681061.1:c.692+15286A>G | ||
| ENST00000681101.1:c.1069-9A>G | ENSP00000506564.1:n.1069-9A>G | |
| ENST00000681195.1:c.1069-12A>G | ENSP00000504933.1:n.1069-12A>G | |
| ENST00000681249.1:c.1069-12A>G | ENSP00000506013.1:n.1069-12A>G | |
| ENST00000681344.1:c.1069-9A>G | ENSP00000506151.1:n.1069-9A>G | |
| ENST00000681355.1:c.1069-9A>G | ENSP00000506214.1:n.1069-9A>G | |
| ENST00000681363.1:c.*169-9A>G | ENSP00000505564.1:n.*169-9A>G | |
| ENST00000681419.1:c.1069-9A>G | ENSP00000505512.1:n.1069-9A>G | |
| ENST00000681474.1:c.890-9A>G | ENSP00000505569.1:n.890-9A>G | |
| ENST00000681493.1:c.1063-9A>G | ENSP00000506429.1:n.1063-9A>G | |
| ENST00000681524.1:c.*213-9A>G | ENSP00000505783.1:n.*213-9A>G | |
| ENST00000681538.1:c.*238-9A>G | ENSP00000506662.1:n.*238-9A>G | |
| ENST00000681598.1:c.*537+15286A>G | ENSP00000506128.1:n.*537+15286A>G | |
| ENST00000681677.1:c.693-9A>G | ||
| ENST00000681695.1:c.*659-9A>G | ENSP00000506225.1:n.*659-9A>G | |
| ENST00000681778.1:c.1068+15286A>G | ENSP00000506049.1:n.1068+15286A>G | |
| ENST00000216639.7:c.1069-9A>G | ENSP00000216639.3:n.1069-9A>G | |
| ENST00000555067.1:n.299-9A>G | ||
| ENST00000557222.5:c.637+15286A>G | ||
| NM_003384.2:c.1069-9A>G | NP_003375.1:n.1069-9A>G | |
| XM_006720247.2:c.1069-9A>G | XP_006720310.1:n.1069-9A>G | |
| XM_011537132.1:c.1069-12A>G | XP_011535434.1:n.1069-12A>G | |
| XM_006720247.4:c.1069-9A>G | XP_006720310.1:n.1069-9A>G | |
| XM_017021624.2:c.1069-12A>G | XP_016877113.1:n.1069-12A>G | |
| XM_017021625.1:c.1075-9A>G | XP_016877114.1:n.1075-9A>G | |
| XR_001750539.2:n.1016-9A>G | ||
| NM_003384.3:c.1069-9A>G MANE Select | NP_003375.1:n.1069-9A>G |