Linked Data
ClinVar Variation Id:
363196
ClinVar RCV Id:
RCV000371174
dbSNP Id:
rs571102789
gnomAD v2:
8-48873226-A-G
gnomAD v3:
8-47960666-A-G
gnomAD v4:
8-47960666-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960666A>G , CM000670.2:g.47960666A>G | GRCh38 |
| NC_000008.10:g.48873226A>G , CM000670.1:g.48873226A>G | GRCh37 |
| NC_000008.9:g.49035779A>G | NCBI36 |
| NG_023435.1:g.4518T>C , LRG_162:g.4518T>C | |
| NG_032967.1:g.5464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+346A>G | ENSP00000430329.1:n.-15+346A>G | |
| NM_005914.3:c.-479A>G | NP_005905.2:n.-479A>G | |
| NM_182746.2:c.-363A>G | NP_877423.1:n.-363A>G | |
| XM_005251234.1:c.-725A>G | XP_005251291.1:n.-725A>G |