Linked Data
ClinVar Variation Id:
2458299
ClinVar RCV Id:
RCV004254573
dbSNP Id:
rs762672371
ExAC:
14:74416696 C / T
gnomAD v2:
14-74416696-C-T
gnomAD v3:
14-73949993-C-T
gnomAD v4:
14-73949993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73949993C>T , CM000676.2:g.73949993C>T | GRCh38 |
| NC_000014.8:g.74416696C>T , CM000676.1:g.74416696C>T | GRCh37 |
| NC_000014.7:g.73486449C>T | NCBI36 |
| NG_032805.1:g.5060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.34G>A (FAM161B) MANE Select | ENSP00000286544.4:p.Gly12Ser | |
| ENST00000651776.1:c.223G>A (FAM161B) | ENSP00000499021.1:p.Gly75Ser | |
| ENST00000286544.3:c.223G>A (FAM161B) | ENSP00000286544.3:p.Gly75Ser | |
| ENST00000394026.8:c.-100C>T (COQ6) | ENSP00000377594.4:n.-100C>T | |
| ENST00000554341.6:c.-100C>T (COQ6) | ENSP00000450736.2:n.-100C>T | |
| NM_152445.2:c.223G>A (FAM161B) | NP_689658.2:p.Gly75Ser | |
| NM_182480.2:c.-100C>T (COQ6) | NP_872286.2:n.-100C>T | |
| XM_011536475.1:c.223G>A (FAM161B) | XP_011534777.1:p.Gly75Ser | |
| XM_011536809.1:c.-191C>T (COQ6) | XP_011535111.1:n.-191C>T | |
| NM_152445.3:c.34G>A (FAM161B) MANE Select | NP_689658.3:p.Gly12Ser | |
| XM_011536475.2:c.223G>A (FAM161B) | XP_011534777.1:p.Gly75Ser | |
| XM_011536809.3:c.-191C>T (COQ6) | XP_011535111.1:n.-191C>T | |
| NM_182480.3:c.-100C>T (COQ6) | NP_872286.2:n.-100C>T |