Canonical Allele Identifier:
CA60769441
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96794407 (EAS)
Genomes Max Group AF
0.96794407 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173348166G>A , CM000664.2:g.173348166G>A | GRCh38 |
| NC_000002.11:g.174212894G>A , CM000664.1:g.174212894G>A | GRCh37 |
| NC_000002.10:g.173921140G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437243.1:n.42+8001C>T |