Linked Data
ClinVar Variation Id:
220982
dbSNP Id:
rs12994774
ExAC:
2:179528038 A / C
gnomAD v2:
2-179528038-A-C
gnomAD v3:
2-178663311-A-C
gnomAD v4:
2-178663311-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178663311A>C , CM000664.2:g.178663311A>C | GRCh38 |
| NC_000002.11:g.179528038A>C , CM000664.1:g.179528038A>C | GRCh37 |
| NC_000002.10:g.179236283A>C | NCBI36 |
| NG_011618.3:g.172492T>G , LRG_391:g.172492T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.31484-256T>G | ENSP00000343764.6:n.31484-256T>G | |
| ENST00000342175.11:c.13859-20994T>G | ENSP00000340554.6:n.13859-20994T>G | |
| ENST00000359218.10:c.13658-20994T>G | ENSP00000352154.5:n.13658-20994T>G | |
| ENST00000342175.10:c.13859-20994T>G | ENSP00000340554.6:n.13859-20994T>G | |
| ENST00000342992.10:c.31484-256T>G | ENSP00000343764.6:n.31484-256T>G | |
| ENST00000359218.9:c.13658-20994T>G | ENSP00000352154.5:n.13658-20994T>G | |
| ENST00000414766.5:c.2440+10322T>G | ENSP00000401501.1:n.2440+10322T>G | |
| ENST00000460472.6:c.13283-20994T>G | ENSP00000434586.1:n.13283-20994T>G | |
| ENST00000589042.5:c.36655T>G MANE Select | ENSP00000467141.1:p.Leu12219Val | |
| ENST00000591111.5:c.34265-4517T>G | ENSP00000465570.1:n.34265-4517T>G | |
| ENST00000615779.4:c.34265-256T>G | ENSP00000483597.1:n.34265-256T>G | |
| NM_001256850.1:c.34265-256T>G | NP_001243779.1:n.34265-256T>G | |
| NM_001267550.2:c.36655T>G MANE Select | NP_001254479.2:p.Leu12219Val | |
| NM_003319.4:c.13283-20994T>G | NP_003310.4:n.13283-20994T>G | |
| NM_133378.4:c.31484-256T>G | NP_596869.4:n.31484-256T>G | |
| NM_133432.3:c.13658-20994T>G | NP_597676.3:n.13658-20994T>G | |
| NM_133437.4:c.13859-20994T>G | NP_597681.4:n.13859-20994T>G | |
| XM_011511729.1:c.35752T>G | XP_011510031.1:p.Leu11918Val | |
| XM_011511730.1:c.13469-20994T>G | XP_011510032.1:n.13469-20994T>G | |
| XM_011511731.1:c.13328-20994T>G | XP_011510033.1:n.13328-20994T>G | |
| XM_017004819.1:c.35548T>G | XP_016860308.1:p.Leu11850Val | |
| XM_017004820.1:c.31487-256T>G | XP_016860309.1:n.31487-256T>G | |
| XM_017004821.1:c.31484-256T>G | XP_016860310.1:n.31484-256T>G | |
| XM_017004822.1:c.31858+10322T>G | XP_016860311.1:n.31858+10322T>G | |
| XM_017004823.1:c.13424-20994T>G | XP_016860312.1:n.13424-20994T>G | |
| XM_024453094.1:c.33299-256T>G | XP_024308862.1:n.33299-256T>G | |
| XM_024453095.1:c.33296-256T>G | XP_024308863.1:n.33296-256T>G | |
| XM_024453096.1:c.32729-256T>G | XP_024308864.1:n.32729-256T>G | |
| XM_024453097.1:c.31690+10322T>G | XP_024308865.1:n.31690+10322T>G | |
| XM_024453098.1:c.31609+10322T>G | XP_024308866.1:n.31609+10322T>G | |
| XM_024453099.1:c.13424-20994T>G | XP_024308867.1:n.13424-20994T>G | |
| XM_024453100.1:c.-10+249T>G | XP_024308868.1:n.-10+249T>G |