Canonical Allele Identifier: CA13142627
Gene:

Linked Data

dbSNP Id: rs11255842
gnomAD v2: 10-8739664-G-C
gnomAD v3: 10-8697701-G-C
gnomAD v4: 10-8697701-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697701G>C , CM000672.2:g.8697701G>C GRCh38
NC_000010.10:g.8739664G>C , CM000672.1:g.8739664G>C GRCh37
NC_000010.9:g.8779670G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27900C>G