Canonical Allele Identifier: CA1139269534
Gene:

Linked Data

dbSNP Id: rs2053323779
gnomAD v3: Y-12512452-T-C
gnomAD v4: Y-12512452-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12512452T>C , CM000686.2:g.12512452T>C GRCh38
NC_000024.9:g.14624252T>C , CM000686.1:g.14624252T>C GRCh37
NC_000024.8:g.13134260T>C NCBI36