Linked Data
ClinVar Variation Id:
2797167
ClinVar RCV Id:
RCV003671059
dbSNP Id:
rs3735959
ExAC:
8:19809479 A / G
gnomAD v2:
8-19809479-A-G
gnomAD v3:
8-19951968-A-G
gnomAD v4:
8-19951968-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951968A>G , CM000670.2:g.19951968A>G | GRCh38 |
| NC_000008.10:g.19809479A>G , CM000670.1:g.19809479A>G | GRCh37 |
| NC_000008.9:g.19853759A>G | NCBI36 |
| NG_008855.1:g.17898A>G | |
| NG_008855.2:g.55252A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+20A>G MANE Select | ENSP00000497642.1:n.429+20A>G | |
| ENST00000311322.8:c.429+20A>G | ENSP00000309757.6:n.429+20A>G | |
| ENST00000520959.5:c.201+20A>G | ENSP00000428496.1:n.201+20A>G | |
| NM_000237.2:c.429+20A>G | NP_000228.1:n.429+20A>G | |
| NM_000237.3:c.429+20A>G MANE Select | NP_000228.1:n.429+20A>G |