Canonical Allele Identifier: CA1048013721

Gene:

Linked Data

• dbSNP Id: rs1700429013
• gnomAD v3: 3-53057147-A-G
• gnomAD v4: 3-53057147-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057147A>G , CM000665.2:g.53057147A>G	GRCh38
NC_000003.11:g.53091163A>G , CM000665.1:g.53091163A>G	GRCh37
NC_000003.10:g.53066203A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9908T>C
ENST00000607283.5:c.465-13893T>C
ENST00000607495.5:c.447+20541T>C