gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67030753 (SAS)
Genomes Max Group AF
0.67030753 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120944005G>A , CM000671.2:g.120944005G>A | GRCh38 |
| NC_000009.11:g.123706283G>A , CM000671.1:g.123706283G>A | GRCh37 |
| NC_000009.10:g.122746104G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.5898+8187C>T (C5) | ||
| ENST00000696280.1:n.5667+8187C>T (C5) | ||
| ENST00000696281.1:c.*547+8187C>T (C5) | ENSP00000512521.1:n.*547+8187C>T | |
| ENST00000697921.1:n.4456+8187C>T (C5) | ||
| ENST00000697922.1:c.*5568+8187C>T (C5) | ENSP00000513478.1:n.*5568+8187C>T | |
| NR_148450.1:n.641-496C>T (C5-OT1) |