gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61170171 (AFR)
Genomes Max Group AF
0.60169246 (AFR)
Exomes Max Group AF
0.61974818 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42374268G>A , CM000670.2:g.42374268G>A | GRCh38 |
| NC_000008.10:g.42231786G>A , CM000670.1:g.42231786G>A | GRCh37 |
| NC_000008.9:g.42350943G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220812.3:c.507C>T MANE Select | ENSP00000220812.2:p.Val169= | |
| ENST00000220812.2:c.507C>T | ENSP00000220812.2:p.Val169= | |
| NM_014420.2:c.507C>T | NP_055235.1:p.Val169= | |
| XM_011544486.1:c.507C>T | XP_011542788.1:p.Val169= | |
| XM_011544487.1:c.507C>T | XP_011542789.1:p.Val169= | |
| XM_011544488.1:c.507C>T | XP_011542790.1:p.Val169= | |
| XM_011544489.1:c.507C>T | XP_011542791.1:p.Val169= | |
| XM_011544488.2:c.507C>T | XP_011542790.1:p.Val169= | |
| XM_017013316.1:c.507C>T | XP_016868805.1:p.Val169= | |
| NM_014420.3:c.507C>T MANE Select | NP_055235.1:p.Val169= |