Linked Data
ClinVar Variation Id:
46904
ClinVar RCV Id:
RCV000040174
RCV000082392
RCV000309400
RCV000350143
RCV000369677
RCV000315049
RCV000399534
RCV000852870
RCV001082919
RCV001798146
dbSNP Id:
rs140640738
ExAC:
2:179539812 T / G
gnomAD v2:
2-179539812-T-G
gnomAD v3:
2-178675085-T-G
gnomAD v4:
2-178675085-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178675085T>G , CM000664.2:g.178675085T>G | GRCh38 |
| NC_000002.11:g.179539812T>G , CM000664.1:g.179539812T>G | GRCh37 |
| NC_000002.10:g.179248057T>G | NCBI36 |
| NG_011618.3:g.160718A>C , LRG_391:g.160718A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.30663A>C | ENSP00000343764.6:p.Glu10221Asp | |
| ENST00000342175.11:c.13859-32768A>C | ENSP00000340554.6:n.13859-32768A>C | |
| ENST00000359218.10:c.13658-32768A>C | ENSP00000352154.5:n.13658-32768A>C | |
| ENST00000342175.10:c.13859-32768A>C | ENSP00000340554.6:n.13859-32768A>C | |
| ENST00000342992.10:c.30663A>C | ENSP00000343764.6:p.Glu10221Asp | |
| ENST00000359218.9:c.13658-32768A>C | ENSP00000352154.5:n.13658-32768A>C | |
| ENST00000414766.5:c.2267-676A>C | ENSP00000401501.1:n.2267-676A>C | |
| ENST00000460472.6:c.13283-32768A>C | ENSP00000434586.1:n.13283-32768A>C | |
| ENST00000589042.5:c.34566A>C MANE Select | ENSP00000467141.1:p.Glu11522Asp | |
| ENST00000591111.5:c.33444A>C | ENSP00000465570.1:p.Glu11148Asp | |
| ENST00000615779.4:c.33444A>C | ENSP00000483597.1:p.Glu11148Asp | |
| NM_001256850.1:c.33444A>C | NP_001243779.1:p.Glu11148Asp | |
| NM_001267550.2:c.34566A>C MANE Select | NP_001254479.2:p.Glu11522Asp | |
| NM_003319.4:c.13283-32768A>C | NP_003310.4:n.13283-32768A>C | |
| NM_133378.4:c.30663A>C | NP_596869.4:p.Glu10221Asp | |
| NM_133432.3:c.13658-32768A>C | NP_597676.3:n.13658-32768A>C | |
| NM_133437.4:c.13859-32768A>C | NP_597681.4:n.13859-32768A>C | |
| XM_011511729.1:c.33663A>C | XP_011510031.1:p.Glu11221Asp | |
| XM_011511730.1:c.13469-32768A>C | XP_011510032.1:n.13469-32768A>C | |
| XM_011511731.1:c.13328-32768A>C | XP_011510033.1:n.13328-32768A>C | |
| XM_017004819.1:c.33618A>C | XP_016860308.1:p.Glu11206Asp | |
| XM_017004820.1:c.30666A>C | XP_016860309.1:p.Glu10222Asp | |
| XM_017004821.1:c.30663A>C | XP_016860310.1:p.Glu10221Asp | |
| XM_017004822.1:c.31685-676A>C | XP_016860311.1:n.31685-676A>C | |
| XM_017004823.1:c.13424-32768A>C | XP_016860312.1:n.13424-32768A>C | |
| XM_024453094.1:c.33047-676A>C | XP_024308862.1:n.33047-676A>C | |
| XM_024453095.1:c.33075A>C | XP_024308863.1:p.Glu11025Asp | |
| XM_024453096.1:c.32477-676A>C | XP_024308864.1:n.32477-676A>C | |
| XM_024453097.1:c.31517-676A>C | XP_024308865.1:n.31517-676A>C | |
| XM_024453098.1:c.31436-676A>C | XP_024308866.1:n.31436-676A>C | |
| XM_024453099.1:c.13424-32768A>C | XP_024308867.1:n.13424-32768A>C |