gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51476847 (AFR)
Genomes Max Group AF
0.51476847 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10049484C>T , CM000668.2:g.10049484C>T | GRCh38 |
| NC_000006.11:g.10049717C>T , CM000668.1:g.10049717C>T | GRCh37 |
| NC_000006.10:g.10157703C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472329.5:n.116+11166G>A | ||
| ENST00000481704.1:c.5+109910G>A | ENSP00000418286.1:n.5+109910G>A | |
| ENST00000485268.1:c.-291+11166G>A | ENSP00000417933.1:n.-291+11166G>A | |
| XM_011515036.1:c.122+11166G>A | XP_011513338.1:n.122+11166G>A | |
| XR_926457.1:n.113-7720C>T | ||
| XM_017011612.1:c.5+109910G>A | XP_016867101.1:n.5+109910G>A | |
| XR_926457.2:n.119-7720C>T | ||
| NR_170155.1:n.337+109910G>A |