Linked Data
ClinVar Variation Id:
8111
ClinVar RCV Id:
RCV000008579
dbSNP Id:
rs587776684
gnomAD v4:
12-85283877-G-A
PubMed:
PMID:20451171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85283877G>A , CM000674.2:g.85283877G>A | GRCh38 |
| NC_000012.11:g.85677655G>A , CM000674.1:g.85677655G>A | GRCh37 |
| NC_000012.10:g.84201786G>A | NCBI36 |
| NG_023202.1:g.8620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.531+1G>A MANE Select | ENSP00000315417.3:n.531+1G>A | |
| ENST00000316824.3:c.531+1G>A | ENSP00000315417.3:n.531+1G>A | |
| NM_006982.2:c.531+1G>A | NP_008913.2:n.531+1G>A | |
| XM_005269165.3:c.531+1G>A | XP_005269222.1:n.531+1G>A | |
| XM_011538782.1:c.246+1G>A | XP_011537084.1:n.246+1G>A | |
| XM_011538783.1:c.246+1G>A | XP_011537085.1:n.246+1G>A | |
| XM_011538782.2:c.246+1G>A | XP_011537084.1:n.246+1G>A | |
| NM_006982.3:c.531+1G>A MANE Select | NP_008913.2:n.531+1G>A |