Canonical Allele Identifier: CA985406188

Gene:

Linked Data

• dbSNP Id: rs2031066814
• gnomAD v3: 17-63506330-T-C
• gnomAD v4: 17-63506330-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63506330T>C , CM000679.2:g.63506330T>C	GRCh38
NC_000017.10:g.61583691T>C , CM000679.1:g.61583691T>C	GRCh37
NC_000017.9:g.58937423T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1970-726T>C	ENSP00000464149.1:n.1970-726T>C