gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91286812 (AFR)
Genomes Max Group AF
0.91286812 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106120159C>T , CM000668.2:g.106120159C>T | GRCh38 |
| NC_000006.11:g.106568034C>T , CM000668.1:g.106568034C>T | GRCh37 |
| NC_000006.10:g.106674727C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636335.1:c.458-41844G>A | ENSP00000490221.1:n.458-41844G>A | |
| ENST00000636437.1:c.458-73334G>A | ENSP00000490376.1:n.458-73334G>A |