Canonical Allele Identifier: CA1365145730
Gene:

Linked Data

dbSNP Id: rs1700429809

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057236C>G , CM000665.2:g.53057236C>G GRCh38
NC_000003.11:g.53091252C>G , CM000665.1:g.53091252C>G GRCh37
NC_000003.10:g.53066292C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9997G>C
ENST00000607283.5:c.465-13982G>C
ENST00000607495.5:c.447+20452G>C