Canonical Allele Identifier:
CA178107061
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29298086 (AFR)
Genomes Max Group AF
0.29298086 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60091338C>T , CM000670.2:g.60091338C>T | GRCh38 |
| NC_000008.10:g.61003897C>T , CM000670.1:g.61003897C>T | GRCh37 |
| NC_000008.9:g.61166451C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011517654.1:c.151+16615C>T | XP_011515956.1:n.151+16615C>T | |
| XR_001745714.2:n.685+16615C>T |