Canonical Allele Identifier: CA994474692
Community Standard Title: NC_000019.10:g.21483408C>G
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.21483408C>G , CM000681.2:g.21483408C>G GRCh38
NC_000019.9:g.21666210C>G , CM000681.1:g.21666210C>G GRCh37
NC_000019.8:g.21458050C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600810.1:c.197-6257C>G ENSP00000473166.1:n.197-6257C>G