gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79420192 (SAS)
Genomes Max Group AF
0.79420192 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120944104T>C , CM000671.2:g.120944104T>C | GRCh38 |
| NC_000009.11:g.123706382T>C , CM000671.1:g.123706382T>C | GRCh37 |
| NC_000009.10:g.122746203T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.5898+8088A>G (C5) | ||
| ENST00000696280.1:n.5667+8088A>G (C5) | ||
| ENST00000696281.1:c.*547+8088A>G (C5) | ENSP00000512521.1:n.*547+8088A>G | |
| ENST00000697921.1:n.4456+8088A>G (C5) | ||
| ENST00000697922.1:c.*5568+8088A>G (C5) | ENSP00000513478.1:n.*5568+8088A>G | |
| NR_148450.1:n.641-595A>G (C5-OT1) |