gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82915969 (SAS)
Genomes Max Group AF
0.82915969 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25168420C>G , CM000666.2:g.25168420C>G | GRCh38 |
| NC_000004.11:g.25170042C>G , CM000666.1:g.25170042C>G | GRCh37 |
| NC_000004.10:g.24779140C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512921.4:c.-21+7667C>G | ENSP00000423373.1:n.-21+7667C>G | |
| NR_037934.1:n.82+7667C>G |