Linked Data
ClinVar Variation Id:
325678
ClinVar RCV Id:
RCV000408111
dbSNP Id:
rs75126416
ExAC:
17:76988668 T / C
gnomAD v2:
17-76988668-T-C
gnomAD v3:
17-78992586-T-C
gnomAD v4:
17-78992586-T-C
MyVariant Identifiers:
chr17:g.76988668T>C (hg19)
chr17:g.76988668_76988669delinsCA (hg19)
chr17:g.78992586T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78992586T>C , CM000679.2:g.78992586T>C | GRCh38 |
| NC_000017.10:g.76988668T>C , CM000679.1:g.76988668T>C | GRCh37 |
| NC_000017.9:g.74500263T>C | NCBI36 |
| NG_016645.1:g.22232A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392446.10:c.*964A>G MANE Select | ENSP00000376241.4:n.*964A>G | |
| ENST00000302345.6:c.*964A>G | ENSP00000307674.2:n.*964A>G | |
| ENST00000392446.9:c.*964A>G | ENSP00000376241.4:n.*964A>G | |
| ENST00000592228.1:c.*28A>G | ENSP00000466743.1:n.*28A>G | |
| ENST00000620915.4:c.*964A>G | ENSP00000477798.1:n.*964A>G | |
| NM_001159772.1:c.*964A>G | NP_001153244.1:n.*964A>G | |
| NM_001159773.1:c.*964A>G | NP_001153245.1:n.*964A>G | |
| NM_138793.3:c.*964A>G | NP_620148.1:n.*964A>G | |
| XM_005257020.1:c.*964A>G | XP_005257077.1:n.*964A>G | |
| XM_005257021.1:c.*964A>G | XP_005257078.1:n.*964A>G | |
| XM_005257022.1:c.*964A>G | XP_005257079.1:n.*964A>G | |
| XM_006721683.1:c.*964A>G | XP_006721746.1:n.*964A>G | |
| XM_011524291.1:c.*964A>G | XP_011522593.1:n.*964A>G | |
| XM_011524292.1:c.*964A>G | XP_011522594.1:n.*964A>G | |
| XM_011524293.1:c.*964A>G | XP_011522595.1:n.*964A>G | |
| XM_011524294.1:c.*964A>G | XP_011522596.1:n.*964A>G | |
| XM_011524295.1:c.*964A>G | XP_011522597.1:n.*964A>G | |
| XR_935009.1:n.2481T>C | ||
| XM_011524294.2:c.*964A>G | XP_011522596.1:n.*964A>G | |
| XM_011524295.2:c.*964A>G | XP_011522597.1:n.*964A>G | |
| XM_024450564.1:c.*964A>G | XP_024306332.1:n.*964A>G | |
| XR_001752424.2:n.2614A>G | ||
| NM_001159773.2:c.*964A>G MANE Select | NP_001153245.1:n.*964A>G | |
| NM_001159772.2:c.*964A>G | NP_001153244.1:n.*964A>G | |
| NM_138793.4:c.*964A>G | NP_620148.1:n.*964A>G |