Canonical Allele Identifier:
CA337441518
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69875614 (AFR)
Genomes Max Group AF
0.69875614 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19755427T>C , CM000686.2:g.19755427T>C | GRCh38 |
| NC_000024.9:g.21917313T>C , CM000686.1:g.21917313T>C | GRCh37 |
| NC_000024.8:g.20376701T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938630.1:n.1238T>C | ||
| XR_001756067.2:n.1339T>C | ||
| XR_001756068.2:n.1236+103T>C | ||
| XR_938630.3:n.1238T>C |