gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08859831 (SAS)
Genomes Max Group AF
0.08859831 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.55977164A>C , CM000679.2:g.55977164A>C | GRCh38 |
| NC_000017.10:g.54054525A>C , CM000679.1:g.54054525A>C | GRCh37 |
| NC_000017.9:g.51409524A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635860.2:c.34+11488A>C | ENSP00000489811.2:n.34+11488A>C | |
| ENST00000635860.1:c.34+11488A>C | ENSP00000489811.1:n.34+11488A>C | |
| ENST00000653862.1:c.208+11488A>C | ENSP00000499705.1:n.208+11488A>C | |
| XM_011524432.1:c.34+11488A>C | XP_011522734.1:n.34+11488A>C |