Canonical Allele Identifier: CA1048013719

Gene:

Linked Data

• dbSNP Id: rs1700428900
• gnomAD v3: 3-53057130-T-C
• gnomAD v4: 3-53057130-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057130T>C , CM000665.2:g.53057130T>C	GRCh38
NC_000003.11:g.53091146T>C , CM000665.1:g.53091146T>C	GRCh37
NC_000003.10:g.53066186T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9891A>G
ENST00000607283.5:c.465-13876A>G
ENST00000607495.5:c.447+20558A>G