gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007507 (SAS)
Genomes Max Group AF
0.0000731 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727403C>T , CM000672.2:g.87727403C>T | GRCh38 |
| NC_000010.10:g.89487160C>T , CM000672.1:g.89487160C>T | GRCh37 |
| NC_000010.9:g.89477140C>T | NCBI36 |
| NG_012150.1:g.72685C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1000C>T MANE Select | ENSP00000406157.1:p.Arg334Ter | |
| ENST00000361175.8:c.985C>T | ENSP00000354436.4:p.Arg329Ter | |
| ENST00000456849.1:c.1000C>T | ENSP00000406157.1:p.Arg334Ter | |
| NM_001015880.1:c.1000C>T | NP_001015880.1:p.Arg334Ter | |
| NM_004670.3:c.985C>T | NP_004661.2:p.Arg329Ter | |
| NM_001015880.2:c.1000C>T MANE Select | NP_001015880.1:p.Arg334Ter | |
| NM_004670.4:c.985C>T | NP_004661.2:p.Arg329Ter |