Linked Data
ClinVar Variation Id:
417159
dbSNP Id:
rs3219166
ExAC:
2:202582895 A / C
gnomAD v2:
2-202582895-A-C
gnomAD v3:
2-201718172-A-C
gnomAD v4:
2-201718172-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201718172A>C , CM000664.2:g.201718172A>C | GRCh38 |
| NC_000002.11:g.202582895A>C , CM000664.1:g.202582895A>C | GRCh37 |
| NC_000002.10:g.202291140A>C | NCBI36 |
| NG_008775.1:g.68001T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3741T>G MANE Select | ENSP00000264276.6:p.Gly1247= | |
| ENST00000439495.6:c.1419T>G | ENSP00000403832.2:p.Gly473= | |
| ENST00000679409.1:c.*89T>G | ENSP00000506531.1:n.*89T>G | |
| ENST00000679416.1:n.5245T>G | ||
| ENST00000679435.1:c.3741T>G | ENSP00000505218.1:p.Gly1247= | |
| ENST00000679516.1:c.3741T>G | ENSP00000505187.1:p.Gly1247= | |
| ENST00000679618.1:c.*829T>G | ENSP00000506274.1:n.*829T>G | |
| ENST00000679630.1:n.5590T>G | ||
| ENST00000679686.1:n.3855T>G | ||
| ENST00000679701.1:n.6733T>G | ||
| ENST00000679916.1:c.*89T>G | ENSP00000506172.1:n.*89T>G | |
| ENST00000680000.1:c.3741T>G | ENSP00000506173.1:p.Gly1247= | |
| ENST00000680135.1:c.*1705T>G | ENSP00000506211.1:n.*1705T>G | |
| ENST00000680149.1:c.3741T>G | ENSP00000506497.1:p.Gly1247= | |
| ENST00000680163.1:c.3741T>G | ENSP00000505092.1:p.Gly1247= | |
| ENST00000680174.1:n.4432T>G | ||
| ENST00000680236.1:c.*802T>G | ENSP00000506212.1:n.*802T>G | |
| ENST00000680441.1:n.2299T>G | ||
| ENST00000680497.1:c.3843T>G | ENSP00000505954.1:p.Gly1281= | |
| ENST00000680508.1:c.3741T>G | ENSP00000505749.1:p.Gly1247= | |
| ENST00000680569.1:c.*1452T>G | ENSP00000505522.1:n.*1452T>G | |
| ENST00000680630.1:n.4173T>G | ||
| ENST00000680634.1:n.249T>G | ||
| ENST00000680722.1:n.1541T>G | ||
| ENST00000680726.1:c.3741T>G | ENSP00000505505.1:p.Gly1247= | |
| ENST00000680737.1:n.4012T>G | ||
| ENST00000680759.1:c.3741T>G | ENSP00000505848.1:p.Gly1247= | |
| ENST00000680814.1:c.3741T>G | ENSP00000505710.1:p.Gly1247= | |
| ENST00000680828.1:c.*1313T>G | ENSP00000505249.1:n.*1313T>G | |
| ENST00000680861.1:c.3741T>G | ENSP00000505043.1:p.Gly1247= | |
| ENST00000680927.1:c.3741T>G | ENSP00000505473.1:p.Gly1247= | |
| ENST00000680939.1:n.4083T>G | ||
| ENST00000681250.1:c.*458T>G | ENSP00000505684.1:n.*458T>G | |
| ENST00000681256.1:c.*1759T>G | ENSP00000505446.1:n.*1759T>G | |
| ENST00000681279.1:n.4509T>G | ||
| ENST00000681307.1:n.4854T>G | ||
| ENST00000681461.1:n.4509T>G | ||
| ENST00000681495.1:c.1281T>G | ENSP00000506085.1:p.Gly427= | |
| ENST00000681558.1:c.1419T>G | ENSP00000505568.1:p.Gly473= | |
| ENST00000681619.1:c.3741T>G | ENSP00000505071.1:p.Gly1247= | |
| ENST00000681663.1:n.525T>G | ||
| ENST00000681716.1:c.*1595T>G | ENSP00000505078.1:n.*1595T>G | |
| ENST00000681758.1:n.4083T>G | ||
| ENST00000681768.1:c.*1405T>G | ENSP00000506311.1:n.*1405T>G | |
| ENST00000681808.1:c.3741T>G | ENSP00000505219.1:p.Gly1247= | |
| ENST00000264276.10:c.3741T>G | ENSP00000264276.6:p.Gly1247= | |
| ENST00000439495.5:c.1845T>G | ||
| ENST00000489440.5:n.562T>G | ||
| NM_020919.3:c.3741T>G | NP_065970.2:p.Gly1247= | |
| XM_005246709.2:c.3741T>G | XP_005246766.1:p.Gly1247= | |
| XM_006712654.1:c.3741T>G | XP_006712717.1:p.Gly1247= | |
| XM_006712655.2:c.1677T>G | XP_006712718.1:p.Gly559= | |
| XM_011511530.1:c.3402T>G | XP_011509832.1:p.Gly1134= | |
| XM_011511531.1:c.3741T>G | XP_011509833.1:p.Gly1247= | |
| XR_922974.1:n.4019T>G | ||
| XM_006712654.3:c.3741T>G | XP_006712717.1:p.Gly1247= | |
| XM_006712655.3:c.1677T>G | XP_006712718.1:p.Gly559= | |
| XM_017004569.2:c.3741T>G | XP_016860058.1:p.Gly1247= | |
| XM_017004570.2:c.3741T>G | XP_016860059.1:p.Gly1247= | |
| XM_017004572.2:c.1359T>G | XP_016860061.1:p.Gly453= | |
| XM_024453024.1:c.3402T>G | XP_024308792.1:p.Gly1134= | |
| XM_024453025.1:c.1677T>G | XP_024308793.1:p.Gly559= | |
| XR_001738864.2:n.3876T>G | ||
| XR_001738865.2:n.3876T>G | ||
| XR_001738866.2:n.4019T>G | ||
| XR_001738867.2:n.4019T>G | ||
| XR_002959320.1:n.2932T>G | ||
| NM_020919.4:c.3741T>G MANE Select | NP_065970.2:p.Gly1247= |