Linked Data
ClinVar Variation Id:
47748
dbSNP Id:
rs72647902
ExAC:
2:179614004 C / A
gnomAD v2:
2-179614004-C-A
gnomAD v3:
2-178749277-C-A
gnomAD v4:
2-178749277-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178749277C>A , CM000664.2:g.178749277C>A | GRCh38 |
| NC_000002.11:g.179614004C>A , CM000664.1:g.179614004C>A | GRCh37 |
| NC_000002.10:g.179322249C>A | NCBI36 |
| NG_011618.3:g.86526G>T , LRG_391:g.86526G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.10360+3847G>T | ENSP00000343764.6:n.10360+3847G>T | |
| ENST00000342175.11:c.10798+3847G>T | ENSP00000340554.6:n.10798+3847G>T | |
| ENST00000359218.10:c.10597+3847G>T | ENSP00000352154.5:n.10597+3847G>T | |
| ENST00000360870.10:c.13123G>T MANE Plus Clinical | ENSP00000354117.4:p.Ala4375Ser | |
| ENST00000342175.10:c.10798+3847G>T | ENSP00000340554.6:n.10798+3847G>T | |
| ENST00000342992.10:c.10360+3847G>T | ENSP00000343764.6:n.10360+3847G>T | |
| ENST00000359218.9:c.10597+3847G>T | ENSP00000352154.5:n.10597+3847G>T | |
| ENST00000360870.9:c.13123G>T | ENSP00000354117.4:p.Ala4375Ser | |
| ENST00000460472.6:c.10222+3847G>T | ENSP00000434586.1:n.10222+3847G>T | |
| ENST00000589042.5:c.11311+3847G>T MANE Select | ENSP00000467141.1:n.11311+3847G>T | |
| ENST00000591111.5:c.10360+3847G>T | ENSP00000465570.1:n.10360+3847G>T | |
| ENST00000615779.4:c.10360+3847G>T | ENSP00000483597.1:n.10360+3847G>T | |
| NM_001256850.1:c.10360+3847G>T | NP_001243779.1:n.10360+3847G>T | |
| NM_001267550.2:c.11311+3847G>T MANE Select | NP_001254479.2:n.11311+3847G>T | |
| NM_003319.4:c.10222+3847G>T | NP_003310.4:n.10222+3847G>T | |
| NM_133378.4:c.10360+3847G>T | NP_596869.4:n.10360+3847G>T | |
| NM_133379.4:c.13123G>T , LRG_391t2:c.13123G>T | NP_596870.2:p.Ala4375Ser | |
| NM_133432.3:c.10597+3847G>T | NP_597676.3:n.10597+3847G>T | |
| NM_133437.4:c.10798+3847G>T | NP_597681.4:n.10798+3847G>T | |
| XM_011511729.1:c.10408+3847G>T | XP_011510031.1:n.10408+3847G>T | |
| XM_011511730.1:c.10408+3847G>T | XP_011510032.1:n.10408+3847G>T | |
| XM_011511731.1:c.10267+3847G>T | XP_011510033.1:n.10267+3847G>T | |
| XM_011511732.1:c.13168G>T | XP_011510034.1:p.Ala4390Ser | |
| XM_017004819.1:c.10363+3847G>T | XP_016860308.1:n.10363+3847G>T | |
| XM_017004820.1:c.10363+3847G>T | XP_016860309.1:n.10363+3847G>T | |
| XM_017004821.1:c.10360+3847G>T | XP_016860310.1:n.10360+3847G>T | |
| XM_017004822.1:c.10363+3847G>T | XP_016860311.1:n.10363+3847G>T | |
| XM_017004823.1:c.10363+3847G>T | XP_016860312.1:n.10363+3847G>T | |
| XM_024453094.1:c.10363+3847G>T | XP_024308862.1:n.10363+3847G>T | |
| XM_024453095.1:c.10363+3847G>T | XP_024308863.1:n.10363+3847G>T | |
| XM_024453096.1:c.10363+3847G>T | XP_024308864.1:n.10363+3847G>T | |
| XM_024453097.1:c.10363+3847G>T | XP_024308865.1:n.10363+3847G>T | |
| XM_024453098.1:c.10363+3847G>T | XP_024308866.1:n.10363+3847G>T | |
| XM_024453099.1:c.10363+3847G>T | XP_024308867.1:n.10363+3847G>T | |
| NM_133379.5:c.13123G>T MANE Plus Clinical | NP_596870.2:p.Ala4375Ser |