Linked Data
ClinVar Variation Id:
709348
ClinVar RCV Id:
RCV000880737
dbSNP Id:
rs3892087
ExAC:
8:124525546 G / A
gnomAD v2:
8-124525546-G-A
gnomAD v3:
8-123513306-G-A
gnomAD v4:
8-123513306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.123513306G>A , CM000670.2:g.123513306G>A | GRCh38 |
| NC_000008.10:g.124525546G>A , CM000670.1:g.124525546G>A | GRCh37 |
| NC_000008.9:g.124594727G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287396.2:n.417C>T | ||
| ENST00000443022.2:c.373-6732C>T | ENSP00000390790.2:n.373-6732C>T | |
| ENST00000517956.5:c.543C>T MANE Select | ENSP00000428205.1:p.Val181= | |
| ENST00000521719.5:n.906C>T | ||
| NM_001242463.1:c.373-6732C>T | NP_001229392.1:n.373-6732C>T | |
| NM_058229.3:c.543C>T | NP_478136.1:p.Val181= | |
| NM_148177.2:c.108C>T | NP_680482.1:p.Val36= | |
| NM_058229.4:c.543C>T MANE Select | NP_478136.1:p.Val181= | |
| NM_001242463.2:c.373-6732C>T | NP_001229392.1:n.373-6732C>T | |
| NM_148177.3:c.108C>T | NP_680482.1:p.Val36= |