Canonical Allele Identifier: CA1458424457
Gene:

Linked Data

dbSNP Id: rs1717633536

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072331A>G , CM000666.2:g.54072331A>G GRCh38
NC_000004.11:g.54938498A>G , CM000666.1:g.54938498A>G GRCh37
NC_000004.10:g.54633255A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-202594A>G ENSP00000423325.1:n.1018-202594A>G