Canonical Allele Identifier: CA1365145719
Gene:

Linked Data

dbSNP Id: rs1700429601

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057218C>A , CM000665.2:g.53057218C>A GRCh38
NC_000003.11:g.53091234C>A , CM000665.1:g.53091234C>A GRCh37
NC_000003.10:g.53066274C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9979G>T
ENST00000607283.5:c.465-13964G>T
ENST00000607495.5:c.447+20470G>T