gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55179568 (AMR)
Genomes Max Group AF
0.55179568 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151311925T>C , CM000667.2:g.151311925T>C | GRCh38 |
| NC_000005.9:g.150691486T>C , CM000667.1:g.150691486T>C | GRCh37 |
| NC_000005.8:g.150671679T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537626.1:c.-2+738A>G | XP_011535928.1:n.-2+738A>G | |
| XM_011537632.1:c.-38+738A>G | XP_011535934.1:n.-38+738A>G |