Canonical Allele Identifier: CA914435676

Gene:

Linked Data

• dbSNP Id: rs1558824513
• gnomAD v2: 2-88315730-G-C
• gnomAD v3: 2-88016211-G-C
• gnomAD v4: 2-88016211-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016211G>C , CM000664.2:g.88016211G>C	GRCh38
NC_000002.11:g.88315730G>C , CM000664.1:g.88315730G>C	GRCh37
NC_000002.10:g.88096845G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.556G>C
XR_940336.3:n.556G>C