Linked Data
ClinVar Variation Id:
322634
ClinVar RCV Id:
RCV000385038
dbSNP Id:
rs886052823
gnomAD v2:
17-33901879-A-G
gnomAD v3:
17-35574860-A-G
gnomAD v4:
17-35574860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35574860A>G , CM000679.2:g.35574860A>G | GRCh38 |
| NC_000017.10:g.33901879A>G , CM000679.1:g.33901879A>G | GRCh37 |
| NC_000017.9:g.30925992A>G | NCBI36 |
| NG_008447.1:g.8778T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.*922T>C MANE Select | ENSP00000225873.3:n.*922T>C | |
| ENST00000225873.8:c.*922T>C | ENSP00000225873.3:n.*922T>C | |
| ENST00000613219.4:c.*922T>C | ENSP00000482609.1:n.*922T>C | |
| NM_000286.2:c.*922T>C | NP_000277.1:n.*922T>C | |
| NM_000286.3:c.*922T>C MANE Select | NP_000277.1:n.*922T>C |