Canonical Allele Identifier: CA1365145665
Gene:

Linked Data

dbSNP Id: rs1700428774
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057100C>T , CM000665.2:g.53057100C>T GRCh38
NC_000003.11:g.53091116C>T , CM000665.1:g.53091116C>T GRCh37
NC_000003.10:g.53066156C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9861G>A
ENST00000607283.5:c.465-13846G>A
ENST00000607495.5:c.447+20588G>A
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