Linked Data
ClinVar Variation Id:
393199
dbSNP Id:
rs767350733
ExAC:
2:202589115 G / A
gnomAD v2:
2-202589115-G-A
gnomAD v3:
2-201724392-G-A
gnomAD v4:
2-201724392-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201724392G>A , CM000664.2:g.201724392G>A | GRCh38 |
| NC_000002.11:g.202589115G>A , CM000664.1:g.202589115G>A | GRCh37 |
| NC_000002.10:g.202297360G>A | NCBI36 |
| NG_008775.1:g.61781C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.3415C>T MANE Select | ENSP00000264276.6:p.Arg1139Ter | |
| ENST00000439495.6:c.1093C>T | ENSP00000403832.2:p.Arg365Ter | |
| ENST00000482891.6:n.4183C>T | ||
| ENST00000494017.6:n.1147C>T | ||
| ENST00000679409.1:c.1093C>T | ENSP00000506531.1:p.Arg365Ter | |
| ENST00000679416.1:n.4919C>T | ||
| ENST00000679435.1:c.3415C>T | ENSP00000505218.1:p.Arg1139Ter | |
| ENST00000679516.1:c.3415C>T | ENSP00000505187.1:p.Arg1139Ter | |
| ENST00000679618.1:c.*503C>T | ENSP00000506274.1:n.*503C>T | |
| ENST00000679630.1:n.5264C>T | ||
| ENST00000679686.1:n.3529C>T | ||
| ENST00000679701.1:n.6407C>T | ||
| ENST00000679916.1:c.3415C>T | ENSP00000506172.1:p.Arg1139Ter | |
| ENST00000680000.1:c.3415C>T | ENSP00000506173.1:p.Arg1139Ter | |
| ENST00000680135.1:c.*1379C>T | ENSP00000506211.1:n.*1379C>T | |
| ENST00000680149.1:c.3415C>T | ENSP00000506497.1:p.Arg1139Ter | |
| ENST00000680163.1:c.3415C>T | ENSP00000505092.1:p.Arg1139Ter | |
| ENST00000680174.1:n.4106C>T | ||
| ENST00000680236.1:c.*476C>T | ENSP00000506212.1:n.*476C>T | |
| ENST00000680497.1:c.3517C>T | ENSP00000505954.1:p.Arg1173Ter | |
| ENST00000680508.1:c.3415C>T | ENSP00000505749.1:p.Arg1139Ter | |
| ENST00000680569.1:c.*1126C>T | ENSP00000505522.1:n.*1126C>T | |
| ENST00000680630.1:n.3847C>T | ||
| ENST00000680634.1:n.21-3903C>T | ||
| ENST00000680722.1:n.1215C>T | ||
| ENST00000680723.1:n.4198C>T | ||
| ENST00000680726.1:c.3415C>T | ENSP00000505505.1:p.Arg1139Ter | |
| ENST00000680737.1:n.3686C>T | ||
| ENST00000680759.1:c.3415C>T | ENSP00000505848.1:p.Arg1139Ter | |
| ENST00000680814.1:c.3415C>T | ENSP00000505710.1:p.Arg1139Ter | |
| ENST00000680828.1:c.*987C>T | ENSP00000505249.1:n.*987C>T | |
| ENST00000680861.1:c.3415C>T | ENSP00000505043.1:p.Arg1139Ter | |
| ENST00000680927.1:c.3415C>T | ENSP00000505473.1:p.Arg1139Ter | |
| ENST00000680939.1:n.3757C>T | ||
| ENST00000681152.1:c.3415C>T | ENSP00000505388.1:p.Arg1139Ter | |
| ENST00000681250.1:c.*132C>T | ENSP00000505684.1:n.*132C>T | |
| ENST00000681256.1:c.*1433C>T | ENSP00000505446.1:n.*1433C>T | |
| ENST00000681279.1:n.4183C>T | ||
| ENST00000681303.1:c.3415C>T | ENSP00000505576.1:p.Arg1139Ter | |
| ENST00000681307.1:n.4528C>T | ||
| ENST00000681461.1:n.4183C>T | ||
| ENST00000681495.1:c.955C>T | ENSP00000506085.1:p.Arg319Ter | |
| ENST00000681558.1:c.1093C>T | ENSP00000505568.1:p.Arg365Ter | |
| ENST00000681619.1:c.3415C>T | ENSP00000505071.1:p.Arg1139Ter | |
| ENST00000681716.1:c.*1126C>T | ENSP00000505078.1:n.*1126C>T | |
| ENST00000681758.1:n.3757C>T | ||
| ENST00000681768.1:c.*1079C>T | ENSP00000506311.1:n.*1079C>T | |
| ENST00000681808.1:c.3415C>T | ENSP00000505219.1:p.Arg1139Ter | |
| ENST00000264276.10:c.3415C>T | ENSP00000264276.6:p.Arg1139Ter | |
| ENST00000439495.5:c.1376C>T | ||
| ENST00000482891.5:n.3555C>T | ||
| ENST00000489440.5:n.236C>T | ||
| NM_020919.3:c.3415C>T | NP_065970.2:p.Arg1139Ter | |
| XM_005246709.2:c.3415C>T | XP_005246766.1:p.Arg1139Ter | |
| XM_006712654.1:c.3415C>T | XP_006712717.1:p.Arg1139Ter | |
| XM_006712655.2:c.1351C>T | XP_006712718.1:p.Arg451Ter | |
| XM_011511530.1:c.3076C>T | XP_011509832.1:p.Arg1026Ter | |
| XM_011511531.1:c.3415C>T | XP_011509833.1:p.Arg1139Ter | |
| XR_922974.1:n.3550C>T | ||
| XM_006712654.3:c.3415C>T | XP_006712717.1:p.Arg1139Ter | |
| XM_006712655.3:c.1351C>T | XP_006712718.1:p.Arg451Ter | |
| XM_017004569.2:c.3415C>T | XP_016860058.1:p.Arg1139Ter | |
| XM_017004570.2:c.3415C>T | XP_016860059.1:p.Arg1139Ter | |
| XM_017004572.2:c.1033C>T | XP_016860061.1:p.Arg345Ter | |
| XM_024453024.1:c.3076C>T | XP_024308792.1:p.Arg1026Ter | |
| XM_024453025.1:c.1351C>T | XP_024308793.1:p.Arg451Ter | |
| XR_001738864.2:n.3550C>T | ||
| XR_001738865.2:n.3550C>T | ||
| XR_001738866.2:n.3550C>T | ||
| XR_001738867.2:n.3550C>T | ||
| XR_002959320.1:n.2606C>T | ||
| NM_020919.4:c.3415C>T MANE Select | NP_065970.2:p.Arg1139Ter |