gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10761937 (AFR)
Genomes Max Group AF
0.10761937 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35679688A>C , CM000673.2:g.35679688A>C | GRCh38 |
| NC_000011.9:g.35701236A>C , CM000673.1:g.35701236A>C | GRCh37 |
| NC_000011.8:g.35657812A>C | NCBI36 |
| NG_052784.1:g.21997A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299413.7:c.670-5571A>C MANE Select | ENSP00000299413.5:n.670-5571A>C | |
| ENST00000299413.6:c.670-5571A>C | ENSP00000299413.5:n.670-5571A>C | |
| NM_017583.5:c.670-5571A>C | NP_060053.2:n.670-5571A>C | |
| XM_006718254.1:c.670-5571A>C | XP_006718317.1:n.670-5571A>C | |
| NM_017583.6:c.670-5571A>C MANE Select | NP_060053.2:n.670-5571A>C |