Linked Data
ClinVar Variation Id:
407769
dbSNP Id:
rs370706991
ExAC:
17:78063562 G / T
gnomAD v2:
17-78063562-G-T
gnomAD v3:
17-80089763-G-T
gnomAD v4:
17-80089763-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80089763G>T , CM000679.2:g.80089763G>T | GRCh38 |
| NC_000017.10:g.78063562G>T , CM000679.1:g.78063562G>T | GRCh37 |
| NC_000017.9:g.75678157G>T | NCBI36 |
| NG_029761.1:g.58132G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2712-1G>T MANE Select | ENSP00000380679.4:n.2712-1G>T | |
| ENST00000374877.7:c.2712-1G>T | ENSP00000364011.3:n.2712-1G>T | |
| ENST00000397545.8:c.2712-1G>T | ENSP00000380679.4:n.2712-1G>T | |
| ENST00000572253.5:n.2963-1G>T | ||
| ENST00000573903.1:n.373G>T | ||
| ENST00000574799.5:n.2249-1G>T | ||
| ENST00000575431.1:n.356-1G>T | ||
| NM_001243342.1:c.2712-1G>T | NP_001230271.1:n.2712-1G>T | |
| NM_017950.3:c.2712-1G>T | NP_060420.2:n.2712-1G>T | |
| XM_011524963.1:c.2622-1G>T | XP_011523265.1:n.2622-1G>T | |
| XM_011524964.1:c.1533-1G>T | XP_011523266.1:n.1533-1G>T | |
| XR_934495.1:n.2830-1G>T | ||
| XM_011524963.3:c.2622-1G>T | XP_011523265.1:n.2622-1G>T | |
| XM_011524964.3:c.1533-1G>T | XP_011523266.1:n.1533-1G>T | |
| XM_024450821.1:c.2622-1G>T | XP_024306589.1:n.2622-1G>T | |
| XR_934495.2:n.2830-1G>T | ||
| NM_017950.4:c.2712-1G>T MANE Select | NP_060420.2:n.2712-1G>T | |
| NM_001243342.2:c.2712-1G>T | NP_001230271.1:n.2712-1G>T |