Linked Data
ClinVar Variation Id:
378856
dbSNP Id:
rs147853760
ExAC:
14:97327024 C / T
gnomAD v2:
14-97327024-C-T
gnomAD v3:
14-96860687-C-T
gnomAD v4:
14-96860687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96860687C>T , CM000676.2:g.96860687C>T | GRCh38 |
| NC_000014.8:g.97327024C>T , CM000676.1:g.97327024C>T | GRCh37 |
| NC_000014.7:g.96396777C>T | NCBI36 |
| NG_016293.1:g.68341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216639.8:c.1020C>T MANE Select | ENSP00000216639.3:p.Asp340= | |
| ENST00000553683.2:c.1020C>T | ENSP00000451412.2:p.Asp340= | |
| ENST00000557222.6:c.636C>T | ENSP00000450820.2:p.Asp212= | |
| ENST00000557352.2:c.1020C>T | ENSP00000451682.2:p.Asp340= | |
| ENST00000679365.1:c.1014C>T | ENSP00000505882.1:p.Asp338= | |
| ENST00000679462.1:c.1020C>T | ENSP00000506011.1:p.Asp340= | |
| ENST00000679506.1:n.3082C>T | ||
| ENST00000679533.1:c.*793C>T | ENSP00000505873.1:n.*793C>T | |
| ENST00000679650.1:c.*709C>T | ENSP00000505156.1:n.*709C>T | |
| ENST00000679727.1:c.1014C>T | ENSP00000505844.1:p.Asp338= | |
| ENST00000679736.1:c.*164C>T | ENSP00000506517.1:n.*164C>T | |
| ENST00000679758.1:c.1020C>T | ENSP00000505539.1:p.Asp340= | |
| ENST00000679770.1:c.1020C>T | ENSP00000505214.1:p.Asp340= | |
| ENST00000679816.1:c.1020C>T | ENSP00000506525.1:p.Asp340= | |
| ENST00000679843.1:c.323C>T | ENSP00000506467.1:n.323C>T | |
| ENST00000679903.1:c.1020C>T | ENSP00000506022.1:p.Asp340= | |
| ENST00000679918.1:c.1020C>T | ENSP00000505439.1:p.Asp340= | |
| ENST00000679941.1:c.1020C>T | ENSP00000506520.1:p.Asp340= | |
| ENST00000679977.1:c.*266C>T | ENSP00000504897.1:n.*266C>T | |
| ENST00000680007.1:c.1020C>T | ENSP00000505683.1:p.Asp340= | |
| ENST00000680084.1:n.1126C>T | ||
| ENST00000680222.1:c.*704C>T | ENSP00000506647.1:n.*704C>T | |
| ENST00000680335.1:c.1020C>T | ENSP00000505806.1:p.Asp340= | |
| ENST00000680339.1:c.*588C>T | ENSP00000506470.1:n.*588C>T | |
| ENST00000680384.1:c.*910C>T | ENSP00000506237.1:n.*910C>T | |
| ENST00000680387.1:c.1020C>T | ENSP00000504908.1:p.Asp340= | |
| ENST00000680509.1:c.1020C>T | ENSP00000505209.1:p.Asp340= | |
| ENST00000680526.1:c.*587+23C>T | ENSP00000505595.1:n.*587+23C>T | |
| ENST00000680538.1:c.930C>T | ENSP00000505611.1:p.Asp310= | |
| ENST00000680683.1:c.1020C>T | ENSP00000506334.1:p.Asp340= | |
| ENST00000680724.1:c.1020C>T | ENSP00000504891.1:p.Asp340= | |
| ENST00000680756.1:c.1020C>T | ENSP00000506648.1:p.Asp340= | |
| ENST00000680849.1:c.1017C>T | ENSP00000505602.1:p.Asp339= | |
| ENST00000680851.1:c.1020C>T | ENSP00000505159.1:p.Asp340= | |
| ENST00000680922.1:c.*164C>T | ENSP00000506480.1:n.*164C>T | |
| ENST00000680993.1:c.*384C>T | ENSP00000505511.1:n.*384C>T | |
| ENST00000681061.1:c.644C>T | ||
| ENST00000681077.1:c.*654C>T | ENSP00000505642.1:n.*654C>T | |
| ENST00000681101.1:c.1020C>T | ENSP00000506564.1:p.Asp340= | |
| ENST00000681176.1:c.894C>T | ENSP00000505454.1:p.Asp298= | |
| ENST00000681195.1:c.1020C>T | ENSP00000504933.1:p.Asp340= | |
| ENST00000681249.1:c.1020C>T | ENSP00000506013.1:p.Asp340= | |
| ENST00000681344.1:c.1020C>T | ENSP00000506151.1:p.Asp340= | |
| ENST00000681355.1:c.1020C>T | ENSP00000506214.1:p.Asp340= | |
| ENST00000681363.1:c.1020C>T | ENSP00000505564.1:p.Asp340= | |
| ENST00000681419.1:c.1020C>T | ENSP00000505512.1:p.Asp340= | |
| ENST00000681474.1:c.889+4101C>T | ENSP00000505569.1:n.889+4101C>T | |
| ENST00000681493.1:c.1014C>T | ENSP00000506429.1:p.Asp338= | |
| ENST00000681524.1:c.*164C>T | ENSP00000505783.1:n.*164C>T | |
| ENST00000681538.1:c.*189C>T | ENSP00000506662.1:n.*189C>T | |
| ENST00000681598.1:c.*489C>T | ENSP00000506128.1:n.*489C>T | |
| ENST00000681677.1:c.644C>T | ||
| ENST00000681695.1:c.*610C>T | ENSP00000506225.1:n.*610C>T | |
| ENST00000681778.1:c.1020C>T | ENSP00000506049.1:p.Asp340= | |
| ENST00000681785.1:c.1020C>T | ENSP00000505166.1:p.Asp340= | |
| ENST00000216639.7:c.1020C>T | ENSP00000216639.3:p.Asp340= | |
| ENST00000555067.1:n.250C>T | ||
| ENST00000557222.5:c.589C>T | ||
| ENST00000557352.1:c.364C>T | ||
| NM_003384.2:c.1020C>T | NP_003375.1:p.Asp340= | |
| XM_006720247.2:c.1020C>T | XP_006720310.1:p.Asp340= | |
| XM_011537132.1:c.1020C>T | XP_011535434.1:p.Asp340= | |
| XM_006720247.4:c.1020C>T | XP_006720310.1:p.Asp340= | |
| XM_017021624.2:c.1020C>T | XP_016877113.1:p.Asp340= | |
| XM_017021625.1:c.1026C>T | XP_016877114.1:p.Asp342= | |
| XM_017021626.2:c.*164C>T | XP_016877115.1:n.*164C>T | |
| XR_001750539.2:n.967C>T | ||
| NM_003384.3:c.1020C>T MANE Select | NP_003375.1:p.Asp340= |