gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36647696 (AFR)
Genomes Max Group AF
0.36647696 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72720793C>T , CM000670.2:g.72720793C>T | GRCh38 |
| NC_000008.10:g.73633028C>T , CM000670.1:g.73633028C>T | GRCh37 |
| NC_000008.9:g.73795582C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523207.2:c.579+152480C>T MANE Select | ENSP00000430846.1:n.579+152480C>T | |
| ENST00000523207.1:c.579+152480C>T | ENSP00000430846.1:n.579+152480C>T | |
| NM_004770.2:c.579+152480C>T | NP_004761.2:n.579+152480C>T | |
| XR_001745620.1:n.1140+152480C>T | ||
| XR_001745621.1:n.1140+152480C>T | ||
| NM_004770.3:c.579+152480C>T MANE Select | NP_004761.2:n.579+152480C>T |