gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2505876 (AMR)
Genomes Max Group AF
0.2505876 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31058212C>T , CM000668.2:g.31058212C>T | GRCh38 |
| NC_000006.11:g.31025989C>T , CM000668.1:g.31025989C>T | GRCh37 |
| NC_000006.10:g.31133968C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646461.3:c.877-1196C>T | ENSP00000507162.2:n.877-1196C>T | |
| ENST00000426185.1:n.1512-1196C>T | ||
| ENST00000565192.1:n.1193-1196C>T | ||
| ENST00000566475.1:n.300-1196C>T | ||
| NR_003948.2:n.1701-1196C>T | ||
| NR_145427.1:n.1193-1196C>T | ||
| NR_003948.3:n.1702-1196C>T | ||
| NR_145427.2:n.1194-1196C>T |