Linked Data
ClinVar Variation Id:
2889300
ClinVar RCV Id:
RCV003739518
dbSNP Id:
rs777723439
ExAC:
3:179122958 A / C
gnomAD v2:
3-179122958-A-C
gnomAD v4:
3-179405170-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179405170A>C , CM000665.2:g.179405170A>C | GRCh38 |
| NC_000003.11:g.179122958A>C , CM000665.1:g.179122958A>C | GRCh37 |
| NC_000003.10:g.180605652A>C | NCBI36 |
| NG_033163.1:g.51414T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.916+20T>G MANE Select | ENSP00000232564.3:n.916+20T>G | |
| ENST00000466899.6:c.700-3851T>G | ENSP00000420066.2:n.700-3851T>G | |
| ENST00000468623.6:c.877+20T>G | ENSP00000419693.2:n.877+20T>G | |
| ENST00000674713.1:c.808+20T>G | ENSP00000502144.1:n.808+20T>G | |
| ENST00000674862.1:c.916+20T>G | ENSP00000502628.1:n.916+20T>G | |
| ENST00000674927.1:c.936T>G | ENSP00000501774.1:n.936T>G | |
| ENST00000675901.1:c.916+20T>G | ENSP00000501992.1:n.916+20T>G | |
| ENST00000676128.1:c.916+20T>G | ENSP00000501882.1:n.916+20T>G | |
| ENST00000232564.7:c.916+20T>G | ENSP00000232564.3:n.916+20T>G | |
| ENST00000466899.5:c.467-3851T>G | ||
| ENST00000468623.5:c.916+20T>G | ENSP00000419693.1:n.916+20T>G | |
| NM_021629.3:c.916+20T>G | NP_067642.1:n.916+20T>G | |
| XM_005247692.1:c.916+20T>G | XP_005247749.1:n.916+20T>G | |
| XM_006713721.1:c.916+20T>G | XP_006713784.1:n.916+20T>G | |
| XM_005247692.2:c.916+20T>G | XP_005247749.1:n.916+20T>G | |
| XM_006713721.2:c.916+20T>G | XP_006713784.1:n.916+20T>G | |
| NM_021629.4:c.916+20T>G MANE Select | NP_067642.1:n.916+20T>G |