Linked Data
ClinVar Variation Id:
325747
dbSNP Id:
rs775788498
ExAC:
17:78069242 G / A
gnomAD v2:
17-78069242-G-A
gnomAD v3:
17-80095443-G-A
gnomAD v4:
17-80095443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80095443G>A , CM000679.2:g.80095443G>A | GRCh38 |
| NC_000017.10:g.78069242G>A , CM000679.1:g.78069242G>A | GRCh37 |
| NC_000017.9:g.75683837G>A | NCBI36 |
| NG_029761.1:g.63812G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.3013G>A MANE Select | ENSP00000380679.4:p.Val1005Ile | |
| ENST00000397545.8:c.3013G>A | ENSP00000380679.4:p.Val1005Ile | |
| ENST00000572253.5:n.3264G>A | ||
| ENST00000574799.5:n.2550G>A | ||
| NM_017950.3:c.3013G>A | NP_060420.2:p.Val1005Ile | |
| XM_011524963.1:c.2923G>A | XP_011523265.1:p.Val975Ile | |
| XM_011524964.1:c.1834G>A | XP_011523266.1:p.Val612Ile | |
| XM_011524963.3:c.2923G>A | XP_011523265.1:p.Val975Ile | |
| XM_011524964.3:c.1834G>A | XP_011523266.1:p.Val612Ile | |
| XM_024450821.1:c.2923G>A | XP_024306589.1:p.Val975Ile | |
| XR_934495.2:n.3131G>A | ||
| NM_017950.4:c.3013G>A MANE Select | NP_060420.2:p.Val1005Ile |