Canonical Allele Identifier: CA1365145728
Gene:

Linked Data

dbSNP Id: rs1575464952

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057235A>C , CM000665.2:g.53057235A>C GRCh38
NC_000003.11:g.53091251A>C , CM000665.1:g.53091251A>C GRCh37
NC_000003.10:g.53066291A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9996T>G
ENST00000607283.5:c.465-13981T>G
ENST00000607495.5:c.447+20453T>G