gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21366482 (AFR)
Genomes Max Group AF
0.21366482 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11279463C>T , CM000678.2:g.11279463C>T | GRCh38 |
| NC_000016.9:g.11373320C>T , CM000678.1:g.11373320C>T | GRCh37 |
| NC_000016.8:g.11280821C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+29685C>T | ||
| ENST00000572173.1:c.-515-15753C>T | ENSP00000461206.1:n.-515-15753C>T | |
| ENST00000573910.1:n.160+29685C>T | ||
| XR_933070.1:n.733+29685C>T | ||
| XR_933070.3:n.876+29685C>T |