gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68014778 (MID)
Genomes Max Group AF
0.60134496 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63511904T>C , CM000679.2:g.63511904T>C | GRCh38 |
| NC_000017.10:g.61589265T>C , CM000679.1:g.61589265T>C | GRCh37 |
| NC_000017.9:g.58942997T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423435.2:n.1288+1072T>C | ||
| ENST00000577647.2:c.*1343+1072T>C | ENSP00000464149.1:n.*1343+1072T>C |