Canonical Allele Identifier: CA292897739

Gene:

Linked Data

• dbSNP Id: rs141332133
• gnomAD v3: 17-63506353-G-C
• MyVariant Identifiers: chr17:g.61583714G>C (hg19) ; chr17:g.63506353G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63506353G>C , CM000679.2:g.63506353G>C	GRCh38
NC_000017.10:g.61583714G>C , CM000679.1:g.61583714G>C	GRCh37
NC_000017.9:g.58937446G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1970-703G>C	ENSP00000464149.1:n.1970-703G>C