Linked Data
ClinVar Variation Id:
183239
ClinVar RCV Id:
RCV000162071
dbSNP Id:
rs730882255
PubMed:
PMID:24562058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201744426C>A , CM000664.2:g.201744426C>A | GRCh38 |
| NC_000002.11:g.202609149C>A , CM000664.1:g.202609149C>A | GRCh37 |
| NC_000002.10:g.202317394C>A | NCBI36 |
| NG_008775.1:g.41747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.2002G>T MANE Select | ENSP00000264276.6:p.Gly668Ter | |
| ENST00000482789.6:n.2344G>T | ||
| ENST00000482891.6:n.2344G>T | ||
| ENST00000679416.1:n.2344G>T | ||
| ENST00000679435.1:c.2002G>T | ENSP00000505218.1:p.Gly668Ter | |
| ENST00000679516.1:c.2002G>T | ENSP00000505187.1:p.Gly668Ter | |
| ENST00000679549.1:n.1231G>T | ||
| ENST00000679550.1:c.2002G>T | ENSP00000506193.1:p.Gly668Ter | |
| ENST00000679618.1:c.2002G>T | ENSP00000506274.1:p.Gly668Ter | |
| ENST00000679630.1:n.2344G>T | ||
| ENST00000679686.1:n.2116G>T | ||
| ENST00000679701.1:n.2344G>T | ||
| ENST00000679916.1:c.2002G>T | ENSP00000506172.1:p.Gly668Ter | |
| ENST00000679939.1:c.2002G>T | ENSP00000505704.1:p.Gly668Ter | |
| ENST00000679949.1:c.1954G>T | ENSP00000505232.1:p.Gly652Ter | |
| ENST00000680000.1:c.2002G>T | ENSP00000506173.1:p.Gly668Ter | |
| ENST00000680135.1:c.1940G>T | ENSP00000506211.1:p.Trp647Leu | |
| ENST00000680149.1:c.2002G>T | ENSP00000506497.1:p.Gly668Ter | |
| ENST00000680163.1:c.2002G>T | ENSP00000505092.1:p.Gly668Ter | |
| ENST00000680174.1:n.2282G>T | ||
| ENST00000680236.1:c.2002G>T | ENSP00000506212.1:p.Gly668Ter | |
| ENST00000680287.1:c.2002G>T | ENSP00000506547.1:p.Gly668Ter | |
| ENST00000680497.1:c.2104G>T | ENSP00000505954.1:p.Gly702Ter | |
| ENST00000680508.1:c.2002G>T | ENSP00000505749.1:p.Gly668Ter | |
| ENST00000680569.1:c.2002G>T | ENSP00000505522.1:p.Gly668Ter | |
| ENST00000680630.1:n.2344G>T | ||
| ENST00000680644.1:c.*513G>T | ENSP00000505738.1:n.*513G>T | |
| ENST00000680726.1:c.2002G>T | ENSP00000505505.1:p.Gly668Ter | |
| ENST00000680737.1:n.2344G>T | ||
| ENST00000680759.1:c.2002G>T | ENSP00000505848.1:p.Gly668Ter | |
| ENST00000680814.1:c.2002G>T | ENSP00000505710.1:p.Gly668Ter | |
| ENST00000680828.1:c.2002G>T | ENSP00000505249.1:p.Gly668Ter | |
| ENST00000680861.1:c.2002G>T | ENSP00000505043.1:p.Gly668Ter | |
| ENST00000680927.1:c.2002G>T | ENSP00000505473.1:p.Gly668Ter | |
| ENST00000680939.1:n.2344G>T | ||
| ENST00000681152.1:c.2002G>T | ENSP00000505388.1:p.Gly668Ter | |
| ENST00000681250.1:c.1471+12976G>T | ENSP00000505684.1:n.1471+12976G>T | |
| ENST00000681256.1:c.1998+2140G>T | ENSP00000505446.1:n.1998+2140G>T | |
| ENST00000681279.1:n.2344G>T | ||
| ENST00000681303.1:c.2002G>T | ENSP00000505576.1:p.Gly668Ter | |
| ENST00000681307.1:n.2344G>T | ||
| ENST00000681461.1:n.2344G>T | ||
| ENST00000681619.1:c.2002G>T | ENSP00000505071.1:p.Gly668Ter | |
| ENST00000681716.1:c.2002G>T | ENSP00000505078.1:p.Gly668Ter | |
| ENST00000681758.1:n.2344G>T | ||
| ENST00000681768.1:c.2002G>T | ENSP00000506311.1:p.Gly668Ter | |
| ENST00000681808.1:c.2002G>T | ENSP00000505219.1:p.Gly668Ter | |
| ENST00000264276.10:c.2002G>T | ENSP00000264276.6:p.Gly668Ter | |
| ENST00000482789.5:n.2142G>T | ||
| ENST00000482891.5:n.2142G>T | ||
| NM_020919.3:c.2002G>T | NP_065970.2:p.Gly668Ter | |
| XM_005246709.2:c.2002G>T | XP_005246766.1:p.Gly668Ter | |
| XM_006712654.1:c.2002G>T | XP_006712717.1:p.Gly668Ter | |
| XM_006712655.2:c.-63G>T | XP_006712718.1:n.-63G>T | |
| XM_011511530.1:c.1663G>T | XP_011509832.1:p.Gly555Ter | |
| XM_011511531.1:c.2002G>T | XP_011509833.1:p.Gly668Ter | |
| XR_922974.1:n.2137G>T | ||
| XM_006712654.3:c.2002G>T | XP_006712717.1:p.Gly668Ter | |
| XM_006712655.3:c.-63G>T | XP_006712718.1:n.-63G>T | |
| XM_017004569.2:c.2002G>T | XP_016860058.1:p.Gly668Ter | |
| XM_017004570.2:c.2002G>T | XP_016860059.1:p.Gly668Ter | |
| XM_017004572.2:c.-484G>T | XP_016860061.1:n.-484G>T | |
| XM_024453024.1:c.1663G>T | XP_024308792.1:p.Gly555Ter | |
| XM_024453025.1:c.-63G>T | XP_024308793.1:n.-63G>T | |
| XR_001738864.2:n.2137G>T | ||
| XR_001738865.2:n.2137G>T | ||
| XR_001738866.2:n.2137G>T | ||
| XR_001738867.2:n.2137G>T | ||
| XR_002959320.1:n.1193G>T | ||
| NM_020919.4:c.2002G>T MANE Select | NP_065970.2:p.Gly668Ter |