gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97358984 (EAS)
Genomes Max Group AF
0.97358984 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881800C>A , CM000681.2:g.47881800C>A | GRCh38 |
| NC_000019.9:g.48385057C>A , CM000681.1:g.48385057C>A | GRCh37 |
| NC_000019.8:g.53076869C>A | NCBI36 |
| NG_016745.1:g.9598G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+284G>T MANE Select | ENSP00000222002.2:n.472+284G>T | |
| ENST00000222002.3:c.472+284G>T | ENSP00000222002.2:n.472+284G>T | |
| NM_003167.3:c.472+284G>T | NP_003158.2:n.472+284G>T | |
| NM_003167.4:c.472+284G>T MANE Select | NP_003158.2:n.472+284G>T |