Canonical Allele Identifier: CA1365145675
Gene:

Linked Data

dbSNP Id: rs1700428921

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057131G>C , CM000665.2:g.53057131G>C GRCh38
NC_000003.11:g.53091147G>C , CM000665.1:g.53091147G>C GRCh37
NC_000003.10:g.53066187G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9892C>G
ENST00000607283.5:c.465-13877C>G
ENST00000607495.5:c.447+20557C>G