Linked Data
ClinVar Variation Id:
540924
ClinVar RCV Id:
RCV000651085
dbSNP Id:
rs377746889
ExAC:
3:179134348 G / C
gnomAD v2:
3-179134348-G-C
gnomAD v3:
3-179416560-G-C
gnomAD v4:
3-179416560-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179416560G>C , CM000665.2:g.179416560G>C | GRCh38 |
| NC_000003.11:g.179134348G>C , CM000665.1:g.179134348G>C | GRCh37 |
| NC_000003.10:g.180617042G>C | NCBI36 |
| NG_033163.1:g.40024C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.204-4C>G MANE Select | ENSP00000232564.3:n.204-4C>G | |
| ENST00000465153.2:c.204-4C>G | ENSP00000502010.1:n.204-4C>G | |
| ENST00000466899.6:c.204-4C>G | ENSP00000420066.2:n.204-4C>G | |
| ENST00000468623.6:c.165-4C>G | ENSP00000419693.2:n.165-4C>G | |
| ENST00000674713.1:c.96-4C>G | ENSP00000502144.1:n.96-4C>G | |
| ENST00000674862.1:c.204-4C>G | ENSP00000502628.1:n.204-4C>G | |
| ENST00000674927.1:c.204-4C>G | ENSP00000501774.1:n.204-4C>G | |
| ENST00000675901.1:c.204-4C>G | ENSP00000501992.1:n.204-4C>G | |
| ENST00000676128.1:c.204-4C>G | ENSP00000501882.1:n.204-4C>G | |
| ENST00000232564.7:c.204-4C>G | ENSP00000232564.3:n.204-4C>G | |
| ENST00000468623.5:c.204-4C>G | ENSP00000419693.1:n.204-4C>G | |
| ENST00000497513.1:c.204-4C>G | ENSP00000420606.1:n.204-4C>G | |
| NM_021629.3:c.204-4C>G | NP_067642.1:n.204-4C>G | |
| XM_005247692.1:c.204-4C>G | XP_005247749.1:n.204-4C>G | |
| XM_006713721.1:c.204-4C>G | XP_006713784.1:n.204-4C>G | |
| XM_011513061.1:c.204-4C>G | XP_011511363.1:n.204-4C>G | |
| XM_005247692.2:c.204-4C>G | XP_005247749.1:n.204-4C>G | |
| XM_006713721.2:c.204-4C>G | XP_006713784.1:n.204-4C>G | |
| NM_021629.4:c.204-4C>G MANE Select | NP_067642.1:n.204-4C>G |