Linked Data
ClinVar Variation Id:
324224
ClinVar RCV Id:
RCV000375976
dbSNP Id:
rs367981628
ExAC:
17:58227349 C / G
gnomAD v2:
17-58227349-C-G
gnomAD v3:
17-60149988-C-G
gnomAD v4:
17-60149988-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60149988C>G , CM000679.2:g.60149988C>G | GRCh38 |
| NC_000017.10:g.58227349C>G , CM000679.1:g.58227349C>G | GRCh37 |
| NC_000017.9:g.55582131C>G | NCBI36 |
| NG_012050.1:g.5048C>G | |
| NG_012050.2:g.5048C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.-47C>G MANE Select | ENSP00000300900.3:n.-47C>G | |
| ENST00000300900.8:c.-47C>G | ENSP00000300900.3:n.-47C>G | |
| ENST00000585705.5:n.47C>G | ||
| ENST00000586876.1:c.-47C>G | ENSP00000467465.1:n.-47C>G | |
| ENST00000591725.1:c.-405C>G | ENSP00000466964.1:n.-405C>G | |
| NM_000717.3:c.-47C>G | NP_000708.1:n.-47C>G | |
| XM_005257639.1:c.-47C>G | XP_005257696.1:n.-47C>G | |
| NM_000717.4:c.-47C>G | NP_000708.1:n.-47C>G | |
| NR_137422.1:n.53C>G | ||
| XM_005257639.3:c.-47C>G | XP_005257696.1:n.-47C>G | |
| XR_001752604.2:n.47C>G | ||
| XR_001752605.2:n.47C>G | ||
| XR_001752606.2:n.47C>G | ||
| XR_001752607.2:n.47C>G | ||
| XR_001752608.2:n.47C>G | ||
| XR_001752609.2:n.47C>G | ||
| XR_001752610.2:n.47C>G | ||
| NM_000717.5:c.-47C>G MANE Select | NP_000708.1:n.-47C>G | |
| NR_137422.2:n.16C>G |