gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33436534 (AFR)
Genomes Max Group AF
0.33436534 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123367880G>C , CM000672.2:g.123367880G>C | GRCh38 |
| NC_000010.10:g.125127396G>C , CM000672.1:g.125127396G>C | GRCh37 |
| NC_000010.9:g.125117386G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946399.1:n.3015+6330G>C | ||
| XR_946400.1:n.2673+6330G>C | ||
| XR_946402.1:n.2903+6330G>C | ||
| XR_946403.1:n.3240+6330G>C | ||
| XR_946405.1:n.2684+6330G>C | ||
| XR_946408.1:n.2909+6330G>C | ||
| XR_946413.1:n.3015+6330G>C | ||
| XR_001747614.1:n.6031+5733G>C | ||
| XR_001747615.1:n.8797+5733G>C | ||
| XR_002957104.1:n.6362+5733G>C | ||
| XR_002957105.1:n.5693+5733G>C |