ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42893495C>T , CM000666.2:g.42893495C>T | GRCh38 |
| NC_000004.11:g.42895512C>T , CM000666.1:g.42895512C>T | GRCh37 |
| NC_000004.10:g.42590269C>T | NCBI36 |
| NG_027718.1:g.5230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.229C>T MANE Select | ENSP00000382670.2:p.Gln77Ter | |
| ENST00000399770.2:c.229C>T | ENSP00000382670.2:p.Gln77Ter | |
| NM_001080476.2:c.229C>T | NP_001073945.1:p.Gln77Ter | |
| NM_001080476.3:c.229C>T MANE Select | NP_001073945.1:p.Gln77Ter |