ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28903043C>T , CM000678.2:g.28903043C>T | GRCh38 |
| NC_000016.9:g.28914364C>T , CM000678.1:g.28914364C>T | GRCh37 |
| NC_000016.8:g.28821865C>T | NCBI36 |
| NG_023327.1:g.29556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395503.9:c.2758C>T MANE Select | ENSP00000378879.5:p.Gln920Ter | |
| ENST00000357084.7:c.2758C>T | ENSP00000349595.3:p.Gln920Ter | |
| ENST00000395503.8:c.2758C>T | ENSP00000378879.4:p.Gln920Ter | |
| ENST00000536376.5:c.2383C>T | ENSP00000443101.1:p.Gln795Ter | |
| NM_001286075.1:c.2383C>T | NP_001273004.1:p.Gln795Ter | |
| NM_004320.4:c.2758C>T | NP_004311.1:p.Gln920Ter | |
| NM_173201.3:c.2758C>T | NP_775293.1:p.Gln920Ter | |
| NM_004320.6:c.2758C>T MANE Select | NP_004311.1:p.Gln920Ter | |
| NM_173201.4:c.2758C>T | NP_775293.1:p.Gln920Ter | |
| NM_001286075.2:c.2383C>T | NP_001273004.1:p.Gln795Ter | |
| NM_173201.5:c.2758C>T | NP_775293.1:p.Gln920Ter |