Canonical Allele Identifier: CA2024136547
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.28075634G>C , CM000674.2:g.28075634G>C GRCh38
NC_000012.11:g.28228567G>C , CM000674.1:g.28228567G>C GRCh37
NC_000012.10:g.28119834G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_931460.1:n.153+31472C>G
XR_931461.1:n.154-11747C>G
XR_931461.2:n.156-11747C>G