Linked Data
ClinVar Variation Id:
763093
ClinVar RCV Id:
RCV000941301
dbSNP Id:
rs1590147844
gnomAD v4:
8-19960907-A-G
MyVariant Identifiers:
chr8:g.19818418A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960907A>G , CM000670.2:g.19960907A>G | GRCh38 |
| NC_000008.10:g.19818418A>G , CM000670.1:g.19818418A>G | GRCh37 |
| NC_000008.9:g.19862698A>G | NCBI36 |
| NG_008855.1:g.26837A>G | |
| NG_008855.2:g.64191A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1146A>G MANE Select | ENSP00000497642.1:p.Glu382= | |
| ENST00000650478.1:c.86A>G | ENSP00000497560.1:p.Lys29Arg | |
| ENST00000311322.8:c.1146A>G | ENSP00000309757.6:p.Glu382= | |
| NM_000237.2:c.1146A>G | NP_000228.1:p.Glu382= | |
| NM_000237.3:c.1146A>G MANE Select | NP_000228.1:p.Glu382= |