gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98411063 (AFR)
Genomes Max Group AF
0.98411063 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11571680T>G , CM000681.2:g.11571680T>G | GRCh38 |
| NC_000019.9:g.11682495T>G , CM000681.1:g.11682495T>G | GRCh37 |
| NC_000019.8:g.11543495T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585493.5:c.-197-3570T>G | ENSP00000464997.1:n.-197-3570T>G | |
| ENST00000588651.1:n.428-3570T>G | ||
| ENST00000593279.5:n.416-3570T>G |