gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27314698 (EAS)
Genomes Max Group AF
0.27314698 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57166826G>A , CM000681.2:g.57166826G>A | GRCh38 |
| NC_000019.9:g.57678194G>A , CM000681.1:g.57678194G>A | GRCh37 |
| NC_000019.8:g.62370006G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554048.3:c.25+593C>T MANE Select | ENSP00000452398.1:n.25+593C>T | |
| ENST00000554048.2:c.25+593C>T | ENSP00000452398.1:n.25+593C>T | |
| NM_001012729.1:c.25+593C>T | NP_001012747.1:n.25+593C>T | |
| NM_001012729.2:c.25+593C>T MANE Select | NP_001012747.1:n.25+593C>T |