gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9098415 (AFR)
Genomes Max Group AF
0.9098415 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53258320T>C , CM000668.2:g.53258320T>C | GRCh38 |
| NC_000006.11:g.53123118T>C , CM000668.1:g.53123118T>C | GRCh37 |
| NC_000006.10:g.53231077T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926880.1:n.1065+3382A>G | ||
| XR_926881.1:n.1069+3382A>G | ||
| XR_926882.1:n.1068+3382A>G | ||
| XR_926883.1:n.1067+3382A>G | ||
| XR_926884.1:n.1063+3382A>G | ||
| XR_926885.1:n.1070+3382A>G | ||
| XM_017011390.2:c.-304+3382A>G | XP_016866879.1:n.-304+3382A>G |