Canonical Allele Identifier: CA1048013737

Gene:

Linked Data

• dbSNP Id: rs1575464952
• gnomAD v3: 3-53057235-A-G
• gnomAD v4: 3-53057235-A-G

Genomic Alleles

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

Transcript Alleles

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