Canonical Allele Identifier:
CA64396220
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94114143 (NFE)
Genomes Max Group AF
0.94114143 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.200130964C>T , CM000664.2:g.200130964C>T | GRCh38 |
| NC_000002.11:g.200995687C>T , CM000664.1:g.200995687C>T | GRCh37 |
| NC_000002.10:g.200703932C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923778.1:n.177+43606G>A |