Linked Data
ClinVar Variation Id:
136984
ClinVar RCV Id:
RCV000124548
dbSNP Id:
rs190881382
ExAC:
14:74416782 T / G
gnomAD v2:
14-74416782-T-G
gnomAD v3:
14-73950079-T-G
gnomAD v4:
14-73950079-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73950079T>G , CM000676.2:g.73950079T>G | GRCh38 |
| NC_000014.8:g.74416782T>G , CM000676.1:g.74416782T>G | GRCh37 |
| NC_000014.7:g.73486535T>G | NCBI36 |
| NG_032805.1:g.5146T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.-53A>C (FAM161B) MANE Select | ENSP00000286544.4:n.-53A>C | |
| ENST00000651776.1:c.137A>C (FAM161B) | ENSP00000499021.1:p.His46Pro | |
| ENST00000286544.3:c.137A>C (FAM161B) | ENSP00000286544.3:p.His46Pro | |
| ENST00000394026.8:c.-14T>G (COQ6) | ENSP00000377594.4:n.-14T>G | |
| ENST00000554341.6:c.-14T>G (COQ6) | ENSP00000450736.2:n.-14T>G | |
| NM_152445.2:c.137A>C (FAM161B) | NP_689658.2:p.His46Pro | |
| NM_182480.2:c.-14T>G (COQ6) | NP_872286.2:n.-14T>G | |
| XM_011536475.1:c.137A>C (FAM161B) | XP_011534777.1:p.His46Pro | |
| XM_011536809.1:c.-105T>G (COQ6) | XP_011535111.1:n.-105T>G | |
| NM_152445.3:c.-53A>C (FAM161B) MANE Select | NP_689658.3:n.-53A>C | |
| XM_011536475.2:c.137A>C (FAM161B) | XP_011534777.1:p.His46Pro | |
| XM_011536809.3:c.-105T>G (COQ6) | XP_011535111.1:n.-105T>G | |
| NM_182480.3:c.-14T>G (COQ6) | NP_872286.2:n.-14T>G |