gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31404543 (AFR)
Genomes Max Group AF
0.31404543 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.62486398C>T , CM000664.2:g.62486398C>T | GRCh38 |
| NC_000002.11:g.62713533C>T , CM000664.1:g.62713533C>T | GRCh37 |
| NC_000002.10:g.62567037C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006711965.2:c.318+16039G>A | XP_006712028.2:n.318+16039G>A | |
| XM_011532693.1:c.319-3650G>A | XP_011530995.1:n.319-3650G>A | |
| XM_011532694.1:c.318+16039G>A | XP_011530996.1:n.318+16039G>A | |
| XM_011532693.2:c.319-3650G>A | XP_011530995.1:n.319-3650G>A | |
| XM_011532694.2:c.318+16039G>A | XP_011530996.1:n.318+16039G>A | |
| XM_024452749.1:c.318+16039G>A | XP_024308517.1:n.318+16039G>A | |
| XR_002959391.1:n.1231-14864C>T |