Linked Data
ClinVar Variation Id:
333585
dbSNP Id:
rs200202953
ExAC:
2:202571733 C / T
gnomAD v2:
2-202571733-C-T
gnomAD v3:
2-201707010-C-T
gnomAD v4:
2-201707010-C-T
COSMIC:
COSM127304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201707010C>T , CM000664.2:g.201707010C>T | GRCh38 |
| NC_000002.11:g.202571733C>T , CM000664.1:g.202571733C>T | GRCh37 |
| NC_000002.10:g.202279978C>T | NCBI36 |
| NG_008775.1:g.79163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.4416G>A MANE Select | ENSP00000264276.6:p.Thr1472= | |
| ENST00000439495.6:c.*596G>A | ENSP00000403832.2:n.*596G>A | |
| ENST00000679409.1:c.*886G>A | ENSP00000506531.1:n.*886G>A | |
| ENST00000679416.1:n.5920G>A | ||
| ENST00000679427.1:n.1852G>A | ||
| ENST00000679435.1:c.4416G>A | ENSP00000505218.1:p.Thr1472= | |
| ENST00000679516.1:c.4416G>A | ENSP00000505187.1:p.Thr1472= | |
| ENST00000679618.1:c.*1504G>A | ENSP00000506274.1:n.*1504G>A | |
| ENST00000679630.1:n.6265G>A | ||
| ENST00000679635.1:n.2443G>A | ||
| ENST00000679686.1:n.4530G>A | ||
| ENST00000679701.1:n.7408G>A | ||
| ENST00000679916.1:c.*764G>A | ENSP00000506172.1:n.*764G>A | |
| ENST00000680000.1:c.4416G>A | ENSP00000506173.1:p.Thr1472= | |
| ENST00000680135.1:c.*2377G>A | ENSP00000506211.1:n.*2377G>A | |
| ENST00000680149.1:c.4413G>A | ENSP00000506497.1:p.Thr1471= | |
| ENST00000680163.1:c.4416G>A | ENSP00000505092.1:p.Thr1472= | |
| ENST00000680174.1:n.5107G>A | ||
| ENST00000680236.1:c.*1477G>A | ENSP00000506212.1:n.*1477G>A | |
| ENST00000680441.1:n.2974G>A | ||
| ENST00000680497.1:c.4518G>A | ENSP00000505954.1:p.Thr1506= | |
| ENST00000680508.1:c.4413G>A | ENSP00000505749.1:p.Thr1471= | |
| ENST00000680569.1:c.*2124G>A | ENSP00000505522.1:n.*2124G>A | |
| ENST00000680634.1:n.924G>A | ||
| ENST00000680722.1:n.2216G>A | ||
| ENST00000680726.1:c.4416G>A | ENSP00000505505.1:p.Thr1472= | |
| ENST00000680759.1:c.4248G>A | ENSP00000505848.1:p.Thr1416= | |
| ENST00000680814.1:c.4416G>A | ENSP00000505710.1:p.Thr1472= | |
| ENST00000680828.1:c.*2110G>A | ENSP00000505249.1:n.*2110G>A | |
| ENST00000680861.1:c.4416G>A | ENSP00000505043.1:p.Thr1472= | |
| ENST00000680927.1:c.*596G>A | ENSP00000505473.1:n.*596G>A | |
| ENST00000680939.1:n.4758G>A | ||
| ENST00000681250.1:c.*1133G>A | ENSP00000505684.1:n.*1133G>A | |
| ENST00000681256.1:c.*2431G>A | ENSP00000505446.1:n.*2431G>A | |
| ENST00000681279.1:n.5282G>A | ||
| ENST00000681307.1:n.5529G>A | ||
| ENST00000681461.1:n.5184G>A | ||
| ENST00000681495.1:c.1953G>A | ENSP00000506085.1:p.Thr651= | |
| ENST00000681558.1:c.2094G>A | ENSP00000505568.1:p.Thr698= | |
| ENST00000681619.1:c.4413G>A | ENSP00000505071.1:p.Thr1471= | |
| ENST00000681663.1:n.1322G>A | ||
| ENST00000681692.1:n.2376G>A | ||
| ENST00000681716.1:c.*2270G>A | ENSP00000505078.1:n.*2270G>A | |
| ENST00000681768.1:c.*2080G>A | ENSP00000506311.1:n.*2080G>A | |
| ENST00000681808.1:c.4403+859G>A | ENSP00000505219.1:n.4403+859G>A | |
| ENST00000264276.10:c.4416G>A | ENSP00000264276.6:p.Thr1472= | |
| ENST00000439495.5:c.2520G>A | ||
| NM_020919.3:c.4416G>A | NP_065970.2:p.Thr1472= | |
| XM_005246709.2:c.4413G>A | XP_005246766.1:p.Thr1471= | |
| XM_006712654.1:c.4416G>A | XP_006712717.1:p.Thr1472= | |
| XM_006712655.2:c.2352G>A | XP_006712718.1:p.Thr784= | |
| XM_011511530.1:c.4077G>A | XP_011509832.1:p.Thr1359= | |
| XR_922974.1:n.4694G>A | ||
| XM_006712654.3:c.4416G>A | XP_006712717.1:p.Thr1472= | |
| XM_006712655.3:c.2352G>A | XP_006712718.1:p.Thr784= | |
| XM_017004569.2:c.4413G>A | XP_016860058.1:p.Thr1471= | |
| XM_017004572.2:c.2034G>A | XP_016860061.1:p.Thr678= | |
| XM_024453024.1:c.4077G>A | XP_024308792.1:p.Thr1359= | |
| XM_024453025.1:c.2349G>A | XP_024308793.1:p.Thr783= | |
| XR_001738864.2:n.4551G>A | ||
| XR_001738865.2:n.4548G>A | ||
| XR_001738866.2:n.4694G>A | ||
| XR_001738867.2:n.4691G>A | ||
| XR_002959320.1:n.3607G>A | ||
| NM_020919.4:c.4416G>A MANE Select | NP_065970.2:p.Thr1472= |