Linked Data
ClinVar Variation Id:
378811
ClinVar RCV Id:
RCV000418302
RCV001130220
RCV001130221
RCV001130218
RCV001130217
RCV001130219
RCV001401879
RCV001729581
dbSNP Id:
rs72650036
ExAC:
2:179546434 G / A
gnomAD v2:
2-179546434-G-A
gnomAD v3:
2-178681707-G-A
gnomAD v4:
2-178681707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178681707G>A , CM000664.2:g.178681707G>A | GRCh38 |
| NC_000002.11:g.179546434G>A , CM000664.1:g.179546434G>A | GRCh37 |
| NC_000002.10:g.179254679G>A | NCBI36 |
| NG_011618.3:g.154096C>T , LRG_391:g.154096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.29394C>T | ENSP00000343764.6:p.Val9798= | |
| ENST00000342175.11:c.13859-39390C>T | ENSP00000340554.6:n.13859-39390C>T | |
| ENST00000359218.10:c.13658-39390C>T | ENSP00000352154.5:n.13658-39390C>T | |
| ENST00000342175.10:c.13859-39390C>T | ENSP00000340554.6:n.13859-39390C>T | |
| ENST00000342992.10:c.29394C>T | ENSP00000343764.6:p.Val9798= | |
| ENST00000359218.9:c.13658-39390C>T | ENSP00000352154.5:n.13658-39390C>T | |
| ENST00000414766.5:c.1968C>T | ENSP00000401501.1:p.Val656= | |
| ENST00000460472.6:c.13283-39390C>T | ENSP00000434586.1:n.13283-39390C>T | |
| ENST00000589042.5:c.33126C>T MANE Select | ENSP00000467141.1:p.Val11042= | |
| ENST00000591111.5:c.32175C>T | ENSP00000465570.1:p.Val10725= | |
| ENST00000615779.4:c.32175C>T | ENSP00000483597.1:p.Val10725= | |
| NM_001256850.1:c.32175C>T | NP_001243779.1:p.Val10725= | |
| NM_001267550.2:c.33126C>T MANE Select | NP_001254479.2:p.Val11042= | |
| NM_003319.4:c.13283-39390C>T | NP_003310.4:n.13283-39390C>T | |
| NM_133378.4:c.29394C>T | NP_596869.4:p.Val9798= | |
| NM_133432.3:c.13658-39390C>T | NP_597676.3:n.13658-39390C>T | |
| NM_133437.4:c.13859-39390C>T | NP_597681.4:n.13859-39390C>T | |
| XM_011511729.1:c.32223C>T | XP_011510031.1:p.Val10741= | |
| XM_011511730.1:c.13469-39390C>T | XP_011510032.1:n.13469-39390C>T | |
| XM_011511731.1:c.13328-39390C>T | XP_011510033.1:n.13328-39390C>T | |
| XM_017004819.1:c.32178C>T | XP_016860308.1:p.Val10726= | |
| XM_017004820.1:c.29397C>T | XP_016860309.1:p.Val9799= | |
| XM_017004821.1:c.29394C>T | XP_016860310.1:p.Val9798= | |
| XM_017004822.1:c.31386C>T | XP_016860311.1:p.Val10462= | |
| XM_017004823.1:c.13424-39390C>T | XP_016860312.1:n.13424-39390C>T | |
| XM_024453094.1:c.32178C>T | XP_024308862.1:p.Val10726= | |
| XM_024453095.1:c.32178C>T | XP_024308863.1:p.Val10726= | |
| XM_024453096.1:c.32178C>T | XP_024308864.1:p.Val10726= | |
| XM_024453097.1:c.31218C>T | XP_024308865.1:p.Val10406= | |
| XM_024453098.1:c.31137C>T | XP_024308866.1:p.Val10379= | |
| XM_024453099.1:c.13424-39390C>T | XP_024308867.1:n.13424-39390C>T |