Canonical Allele Identifier:
CA11127343
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77527163 (SAS)
Genomes Max Group AF
0.77527163 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136218685T>C , CM000664.2:g.136218685T>C | GRCh38 |
| NC_000002.11:g.136976255T>C , CM000664.1:g.136976255T>C | GRCh37 |
| NC_000002.10:g.136692725T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001739716.1:n.901+3549T>C |