gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35016724 (AMR)
Genomes Max Group AF
0.35016724 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32465390G>T , CM000668.2:g.32465390G>T | GRCh38 |
| NC_000006.11:g.32433167G>T , CM000668.1:g.32433167G>T | GRCh37 |
| NC_000006.10:g.32541145G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449413.1:n.77-5303C>A |