Linked Data
ClinVar Variation Id:
1226809
ClinVar RCV Id:
RCV001616074
dbSNP Id:
rs80143795
gnomAD v2:
8-19811944-A-G
gnomAD v3:
8-19954433-A-G
gnomAD v4:
8-19954433-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954433A>G , CM000670.2:g.19954433A>G | GRCh38 |
| NC_000008.10:g.19811944A>G , CM000670.1:g.19811944A>G | GRCh37 |
| NC_000008.9:g.19856224A>G | NCBI36 |
| NG_008855.1:g.20363A>G | |
| NG_008855.2:g.57717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.775+80A>G MANE Select | ENSP00000497642.1:n.775+80A>G | |
| ENST00000311322.8:c.775+80A>G | ENSP00000309757.6:n.775+80A>G | |
| NM_000237.2:c.775+80A>G | NP_000228.1:n.775+80A>G | |
| NM_000237.3:c.775+80A>G MANE Select | NP_000228.1:n.775+80A>G |