Linked Data
ClinVar Variation Id:
362790
ClinVar RCV Id:
RCV000322759
dbSNP Id:
rs886062884
gnomAD v2:
8-30891357-T-G
gnomAD v3:
8-31033841-T-G
gnomAD v4:
8-31033841-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033841T>G , CM000670.2:g.31033841T>G | GRCh38 |
| NC_000008.10:g.30891357T>G , CM000670.1:g.30891357T>G | GRCh37 |
| NC_000008.9:g.31010899T>G | NCBI36 |
| NG_008870.1:g.5580T>G , LRG_524:g.5580T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.-209T>G MANE Select | ENSP00000298139.5:n.-209T>G | |
| ENST00000650667.1:c.-209T>G | ENSP00000498593.1:n.-209T>G | |
| ENST00000298139.5:c.-209T>G | ENSP00000298139.5:n.-209T>G | |
| NM_000553.4:c.-209T>G , LRG_524t1:c.-209T>G | NP_000544.2:n.-209T>G | |
| XM_011544639.1:c.-209T>G | XP_011542941.1:n.-209T>G | |
| XR_949470.1:n.65T>G | ||
| XR_949471.1:n.65T>G | ||
| XR_949472.1:n.65T>G | ||
| NM_000553.5:c.-209T>G | NP_000544.2:n.-209T>G | |
| XM_011544639.3:c.-209T>G | XP_011542941.1:n.-209T>G | |
| XM_024447265.1:c.-543T>G | XP_024303033.1:n.-543T>G | |
| XR_949470.3:n.93T>G | ||
| XR_949471.3:n.93T>G | ||
| XR_949472.3:n.93T>G | ||
| NM_000553.6:c.-209T>G MANE Select | NP_000544.2:n.-209T>G |