gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08696882 (EAS)
Genomes Max Group AF
0.05920226 (EAS)
Exomes Max Group AF
0.08939208 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866813C>T , CM000686.2:g.2866813C>T | GRCh38 |
| NC_000024.9:g.2734854C>T , CM000686.1:g.2734854C>T | GRCh37 |
| NC_000024.8:g.2794854C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.711C>T MANE Select | ENSP00000250784.7:p.Ser237= | |
| ENST00000250784.12:c.711C>T | ENSP00000250784.7:p.Ser237= | |
| ENST00000430575.1:c.738C>T | ENSP00000415317.1:p.Ser246= | |
| ENST00000477725.1:n.855C>T | ||
| ENST00000515575.1:n.42+12042C>T | ||
| NM_001008.3:c.711C>T | NP_000999.1:p.Ser237= | |
| NM_001008.4:c.711C>T MANE Select | NP_000999.1:p.Ser237= |