Linked Data
ClinVar Variation Id:
45369
dbSNP Id:
rs397517169
gnomAD v3:
2-38986092-C-A
gnomAD v4:
2-38986092-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986092C>A , CM000664.2:g.38986092C>A | GRCh38 |
| NC_000002.11:g.39213233C>A , CM000664.1:g.39213233C>A | GRCh37 |
| NC_000002.10:g.39066737C>A | NCBI36 |
| NG_007530.1:g.139372G>T , LRG_754:g.139372G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2501G>T | ENSP00000509424.1:p.Gly834Val | |
| ENST00000686849.1:n.525G>T | ||
| ENST00000690876.1:c.*1040G>T | ENSP00000508955.1:n.*1040G>T | |
| ENST00000692089.1:c.3399+1381G>T | ENSP00000508626.1:n.3399+1381G>T | |
| ENST00000692227.1:c.1162-729G>T | ENSP00000509138.1:n.1162-729G>T | |
| ENST00000402219.8:c.3734G>T MANE Select | ENSP00000384675.2:p.Gly1245Val | |
| ENST00000395038.6:c.3689G>T | ENSP00000378479.2:p.Gly1230Val | |
| ENST00000402219.6:c.3734G>T | ENSP00000384675.2:p.Gly1245Val | |
| ENST00000426016.5:c.3734G>T | ENSP00000387784.1:p.Gly1245Val | |
| ENST00000469581.1:n.477G>T | ||
| NM_005633.3:c.3734G>T , LRG_754t1:c.3734G>T | NP_005624.2:p.Gly1245Val | |
| XM_005264515.3:c.3689G>T | XP_005264572.1:p.Gly1230Val | |
| XM_011533060.1:c.3827G>T | XP_011531362.1:p.Gly1276Val | |
| XM_011533061.1:c.3782G>T | XP_011531363.1:p.Gly1261Val | |
| XM_011533062.1:c.3713G>T | XP_011531364.1:p.Gly1238Val | |
| XM_011533063.1:c.3710G>T | XP_011531365.1:p.Gly1237Val | |
| XM_011533064.1:c.3563G>T | XP_011531366.1:p.Gly1188Val | |
| XM_011533065.1:c.3604-729G>T | XP_011531367.1:n.3604-729G>T | |
| XM_011533066.1:c.2669G>T | XP_011531368.1:p.Gly890Val | |
| XM_005264515.4:c.3689G>T | XP_005264572.1:p.Gly1230Val | |
| XM_011533062.2:c.3713G>T | XP_011531364.1:p.Gly1238Val | |
| XM_011533064.2:c.3563G>T | XP_011531366.1:p.Gly1188Val | |
| NM_001382394.1:c.3713G>T | NP_001369323.1:p.Gly1238Val | |
| NM_001382395.1:c.3689G>T | NP_001369324.1:p.Gly1230Val | |
| NM_005633.4:c.3734G>T MANE Select | NP_005624.2:p.Gly1245Val |