Canonical Allele Identifier: CA882233631
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40286682G>C , CM000681.2:g.40286682G>C GRCh38
NC_000019.9:g.40792589G>C , CM000681.1:g.40792589G>C GRCh37
NC_000019.8:g.45484429G>C NCBI36
NG_012038.2:g.3677C>G

Transcript Alleles

HGVS Amino-acid Change
XR_935967.1:n.169+83G>C