Canonical Allele Identifier: CA1035793722

Gene:

Linked Data

• dbSNP Id: rs1678948179
• gnomAD v3: 2-122369006-G-C
• gnomAD v4: 2-122369006-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369006G>C , CM000664.2:g.122369006G>C	GRCh38
NC_000002.11:g.123126582G>C , CM000664.1:g.123126582G>C	GRCh37
NC_000002.10:g.122843052G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23957G>C
XR_001739684.1:n.556-23957G>C