Canonical Allele Identifier: CA1059430023
Gene:

Linked Data

gnomAD v3: 4-12578256-T-C
gnomAD v4: 4-12578256-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578256T>C , CM000666.2:g.12578256T>C GRCh38
NC_000004.11:g.12579880T>C , CM000666.1:g.12579880T>C GRCh37
NC_000004.10:g.12188978T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31086A>G
XR_001741374.1:n.254+44399A>G
XR_925406.3:n.140+31086A>G