gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055748 (AFR)
Genomes Max Group AF
0.00029891 (AFR)
Exomes Max Group AF
0.00134971 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20588288C>T , CM000686.2:g.20588288C>T | GRCh38 |
| NC_000024.9:g.22750174C>T , CM000686.1:g.22750174C>T | GRCh37 |
| NC_000024.8:g.21159562C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361365.7:c.337+183C>T MANE Select | ENSP00000354722.2:n.337+183C>T | |
| ENST00000361365.6:c.337+183C>T | ENSP00000354722.2:n.337+183C>T | |
| ENST00000382772.3:c.286+183C>T | ENSP00000372222.3:n.286+183C>T | |
| ENST00000464196.5:n.1571C>T | ||
| ENST00000465253.1:n.614C>T | ||
| ENST00000485584.1:n.259+183C>T | ||
| NM_001278612.1:c.286+183C>T | NP_001265541.1:n.286+183C>T | |
| NM_004681.3:c.337+183C>T | NP_004672.2:n.337+183C>T | |
| NM_004681.4:c.337+183C>T MANE Select | NP_004672.2:n.337+183C>T | |
| NM_001278612.2:c.286+183C>T | NP_001265541.1:n.286+183C>T |