Linked Data
ClinVar Variation Id:
1940166
ClinVar RCV Id:
RCV002658256
dbSNP Id:
rs189605211
ExAC:
17:58227471 G / A
gnomAD v2:
17-58227471-G-A
gnomAD v4:
17-60150110-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60150110G>A , CM000679.2:g.60150110G>A | GRCh38 |
| NC_000017.10:g.58227471G>A , CM000679.1:g.58227471G>A | GRCh37 |
| NC_000017.9:g.55582253G>A | NCBI36 |
| NG_012050.1:g.5170G>A | |
| NG_012050.2:g.5170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.58+18G>A MANE Select | ENSP00000300900.3:n.58+18G>A | |
| ENST00000300900.8:c.58+18G>A | ENSP00000300900.3:n.58+18G>A | |
| ENST00000585705.5:n.151+18G>A | ||
| ENST00000586876.1:c.58+18G>A | ENSP00000467465.1:n.58+18G>A | |
| ENST00000591725.1:c.-301+18G>A | ENSP00000466964.1:n.-301+18G>A | |
| NM_000717.3:c.58+18G>A | NP_000708.1:n.58+18G>A | |
| XM_005257639.1:c.58+18G>A | XP_005257696.1:n.58+18G>A | |
| NM_000717.4:c.58+18G>A | NP_000708.1:n.58+18G>A | |
| NR_137422.1:n.157+18G>A | ||
| XM_005257639.3:c.58+18G>A | XP_005257696.1:n.58+18G>A | |
| XR_001752604.2:n.151+18G>A | ||
| XR_001752605.2:n.151+18G>A | ||
| XR_001752606.2:n.151+18G>A | ||
| XR_001752607.2:n.151+18G>A | ||
| XR_001752608.2:n.151+18G>A | ||
| XR_001752609.2:n.151+18G>A | ||
| XR_001752610.2:n.151+18G>A | ||
| NM_000717.5:c.58+18G>A MANE Select | NP_000708.1:n.58+18G>A | |
| NR_137422.2:n.120+18G>A |