Linked Data
ClinVar Variation Id:
1243187
ClinVar RCV Id:
RCV001644086
dbSNP Id:
rs254
ExAC:
8:19811897 C / G
gnomAD v2:
8-19811897-C-G
gnomAD v3:
8-19954386-C-G
gnomAD v4:
8-19954386-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954386C>G , CM000670.2:g.19954386C>G | GRCh38 |
| NC_000008.10:g.19811897C>G , CM000670.1:g.19811897C>G | GRCh37 |
| NC_000008.9:g.19856177C>G | NCBI36 |
| NG_008855.1:g.20316C>G | |
| NG_008855.2:g.57670C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.775+33C>G MANE Select | ENSP00000497642.1:n.775+33C>G | |
| ENST00000311322.8:c.775+33C>G | ENSP00000309757.6:n.775+33C>G | |
| NM_000237.2:c.775+33C>G | NP_000228.1:n.775+33C>G | |
| NM_000237.3:c.775+33C>G MANE Select | NP_000228.1:n.775+33C>G |