Linked Data
ClinVar Variation Id:
46895
ClinVar RCV Id:
RCV000040165
RCV000261380
RCV000315424
RCV000353902
RCV000264717
RCV000300081
RCV000643124
RCV000714019
RCV001170394
dbSNP Id:
rs376874956
ExAC:
2:179543195 C / T
gnomAD v2:
2-179543195-C-T
gnomAD v3:
2-178678468-C-T
gnomAD v4:
2-178678468-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178678468C>T , CM000664.2:g.178678468C>T | GRCh38 |
| NC_000002.11:g.179543195C>T , CM000664.1:g.179543195C>T | GRCh37 |
| NC_000002.10:g.179251440C>T | NCBI36 |
| NG_011618.3:g.157335G>A , LRG_391:g.157335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.30124G>A | ENSP00000343764.6:p.Glu10042Lys | |
| ENST00000342175.11:c.13859-36151G>A | ENSP00000340554.6:n.13859-36151G>A | |
| ENST00000359218.10:c.13658-36151G>A | ENSP00000352154.5:n.13658-36151G>A | |
| ENST00000342175.10:c.13859-36151G>A | ENSP00000340554.6:n.13859-36151G>A | |
| ENST00000342992.10:c.30124G>A | ENSP00000343764.6:p.Glu10042Lys | |
| ENST00000359218.9:c.13658-36151G>A | ENSP00000352154.5:n.13658-36151G>A | |
| ENST00000414766.5:c.2128G>A | ENSP00000401501.1:p.Glu710Lys | |
| ENST00000460472.6:c.13283-36151G>A | ENSP00000434586.1:n.13283-36151G>A | |
| ENST00000589042.5:c.33856G>A MANE Select | ENSP00000467141.1:p.Glu11286Lys | |
| ENST00000591111.5:c.32905G>A | ENSP00000465570.1:p.Glu10969Lys | |
| ENST00000615779.4:c.32905G>A | ENSP00000483597.1:p.Glu10969Lys | |
| NM_001256850.1:c.32905G>A | NP_001243779.1:p.Glu10969Lys | |
| NM_001267550.2:c.33856G>A MANE Select | NP_001254479.2:p.Glu11286Lys | |
| NM_003319.4:c.13283-36151G>A | NP_003310.4:n.13283-36151G>A | |
| NM_133378.4:c.30124G>A | NP_596869.4:p.Glu10042Lys | |
| NM_133432.3:c.13658-36151G>A | NP_597676.3:n.13658-36151G>A | |
| NM_133437.4:c.13859-36151G>A | NP_597681.4:n.13859-36151G>A | |
| XM_011511729.1:c.32953G>A | XP_011510031.1:p.Glu10985Lys | |
| XM_011511730.1:c.13469-36151G>A | XP_011510032.1:n.13469-36151G>A | |
| XM_011511731.1:c.13328-36151G>A | XP_011510033.1:n.13328-36151G>A | |
| XM_017004819.1:c.32908G>A | XP_016860308.1:p.Glu10970Lys | |
| XM_017004820.1:c.30127G>A | XP_016860309.1:p.Glu10043Lys | |
| XM_017004821.1:c.30124G>A | XP_016860310.1:p.Glu10042Lys | |
| XM_017004822.1:c.31546G>A | XP_016860311.1:p.Glu10516Lys | |
| XM_017004823.1:c.13424-36151G>A | XP_016860312.1:n.13424-36151G>A | |
| XM_024453094.1:c.32908G>A | XP_024308862.1:p.Glu10970Lys | |
| XM_024453095.1:c.32908G>A | XP_024308863.1:p.Glu10970Lys | |
| XM_024453096.1:c.32338G>A | XP_024308864.1:p.Glu10780Lys | |
| XM_024453097.1:c.31378G>A | XP_024308865.1:p.Glu10460Lys | |
| XM_024453098.1:c.31297G>A | XP_024308866.1:p.Glu10433Lys | |
| XM_024453099.1:c.13424-36151G>A | XP_024308867.1:n.13424-36151G>A |