Linked Data
ClinVar Variation Id:
333593
dbSNP Id:
rs375742430
ExAC:
2:202592431 C / A
gnomAD v2:
2-202592431-C-A
gnomAD v3:
2-201727708-C-A
gnomAD v4:
2-201727708-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201727708C>A , CM000664.2:g.201727708C>A | GRCh38 |
| NC_000002.11:g.202592431C>A , CM000664.1:g.202592431C>A | GRCh37 |
| NC_000002.10:g.202300676C>A | NCBI36 |
| NG_008775.1:g.58465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.2909G>T MANE Select | ENSP00000264276.6:p.Gly970Val | |
| ENST00000439495.6:c.587G>T | ENSP00000403832.2:p.Gly196Val | |
| ENST00000482891.6:n.3251G>T | ||
| ENST00000494017.6:n.641G>T | ||
| ENST00000679409.1:c.587G>T | ENSP00000506531.1:p.Gly196Val | |
| ENST00000679416.1:n.3987G>T | ||
| ENST00000679435.1:c.2909G>T | ENSP00000505218.1:p.Gly970Val | |
| ENST00000679516.1:c.2909G>T | ENSP00000505187.1:p.Gly970Val | |
| ENST00000679618.1:c.2909G>T | ENSP00000506274.1:p.Gly970Val | |
| ENST00000679630.1:n.3987G>T | ||
| ENST00000679686.1:n.3023G>T | ||
| ENST00000679701.1:n.3987G>T | ||
| ENST00000679916.1:c.2909G>T | ENSP00000506172.1:p.Gly970Val | |
| ENST00000680000.1:c.2909G>T | ENSP00000506173.1:p.Gly970Val | |
| ENST00000680135.1:c.*873G>T | ENSP00000506211.1:n.*873G>T | |
| ENST00000680149.1:c.2909G>T | ENSP00000506497.1:p.Gly970Val | |
| ENST00000680163.1:c.2909G>T | ENSP00000505092.1:p.Gly970Val | |
| ENST00000680174.1:n.3600G>T | ||
| ENST00000680236.1:c.2842-430G>T | ENSP00000506212.1:n.2842-430G>T | |
| ENST00000680497.1:c.3011G>T | ENSP00000505954.1:p.Gly1004Val | |
| ENST00000680508.1:c.2909G>T | ENSP00000505749.1:p.Gly970Val | |
| ENST00000680569.1:c.*620G>T | ENSP00000505522.1:n.*620G>T | |
| ENST00000680630.1:n.3341G>T | ||
| ENST00000680634.1:n.21-7219G>T | ||
| ENST00000680722.1:n.709G>T | ||
| ENST00000680723.1:n.1778G>T | ||
| ENST00000680726.1:c.2909G>T | ENSP00000505505.1:p.Gly970Val | |
| ENST00000680737.1:n.3184-430G>T | ||
| ENST00000680759.1:c.2909G>T | ENSP00000505848.1:p.Gly970Val | |
| ENST00000680814.1:c.2909G>T | ENSP00000505710.1:p.Gly970Val | |
| ENST00000680828.1:c.*481G>T | ENSP00000505249.1:n.*481G>T | |
| ENST00000680861.1:c.2909G>T | ENSP00000505043.1:p.Gly970Val | |
| ENST00000680927.1:c.2909G>T | ENSP00000505473.1:p.Gly970Val | |
| ENST00000680939.1:n.3251G>T | ||
| ENST00000681152.1:c.2909G>T | ENSP00000505388.1:p.Gly970Val | |
| ENST00000681250.1:c.1472-2254G>T | ENSP00000505684.1:n.1472-2254G>T | |
| ENST00000681256.1:c.*501G>T | ENSP00000505446.1:n.*501G>T | |
| ENST00000681279.1:n.3251G>T | ||
| ENST00000681303.1:c.2909G>T | ENSP00000505576.1:p.Gly970Val | |
| ENST00000681307.1:n.3251G>T | ||
| ENST00000681461.1:n.3251G>T | ||
| ENST00000681495.1:c.519+804G>T | ENSP00000506085.1:n.519+804G>T | |
| ENST00000681558.1:c.587G>T | ENSP00000505568.1:p.Gly196Val | |
| ENST00000681619.1:c.2909G>T | ENSP00000505071.1:p.Gly970Val | |
| ENST00000681716.1:c.*620G>T | ENSP00000505078.1:n.*620G>T | |
| ENST00000681758.1:n.3251G>T | ||
| ENST00000681768.1:c.*573G>T | ENSP00000506311.1:n.*573G>T | |
| ENST00000681808.1:c.2909G>T | ENSP00000505219.1:p.Gly970Val | |
| ENST00000264276.10:c.2909G>T | ENSP00000264276.6:p.Gly970Val | |
| ENST00000439495.5:c.870G>T | ||
| ENST00000482891.5:n.3049G>T | ||
| ENST00000494017.5:n.440-430G>T | ||
| NM_020919.3:c.2909G>T | NP_065970.2:p.Gly970Val | |
| XM_005246709.2:c.2909G>T | XP_005246766.1:p.Gly970Val | |
| XM_006712654.1:c.2909G>T | XP_006712717.1:p.Gly970Val | |
| XM_006712655.2:c.845G>T | XP_006712718.1:p.Gly282Val | |
| XM_011511530.1:c.2570G>T | XP_011509832.1:p.Gly857Val | |
| XM_011511531.1:c.2909G>T | XP_011509833.1:p.Gly970Val | |
| XR_922974.1:n.3044G>T | ||
| XM_006712654.3:c.2909G>T | XP_006712717.1:p.Gly970Val | |
| XM_006712655.3:c.845G>T | XP_006712718.1:p.Gly282Val | |
| XM_017004569.2:c.2909G>T | XP_016860058.1:p.Gly970Val | |
| XM_017004570.2:c.2909G>T | XP_016860059.1:p.Gly970Val | |
| XM_017004572.2:c.527G>T | XP_016860061.1:p.Gly176Val | |
| XM_024453024.1:c.2570G>T | XP_024308792.1:p.Gly857Val | |
| XM_024453025.1:c.845G>T | XP_024308793.1:p.Gly282Val | |
| XR_001738864.2:n.3044G>T | ||
| XR_001738865.2:n.3044G>T | ||
| XR_001738866.2:n.3044G>T | ||
| XR_001738867.2:n.3044G>T | ||
| XR_002959320.1:n.2100G>T | ||
| NM_020919.4:c.2909G>T MANE Select | NP_065970.2:p.Gly970Val |