Canonical Allele Identifier: CA1035506054

Gene:

Linked Data

• dbSNP Id: rs1678008511
• gnomAD v3: 2-118079771-A-C
• gnomAD v4: 2-118079771-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079771A>C , CM000664.2:g.118079771A>C	GRCh38
NC_000002.11:g.118837347A>C , CM000664.1:g.118837347A>C	GRCh37
NC_000002.10:g.118553817A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2239T>G	XP_011510607.1:n.697-2239T>G
XR_001739662.2:n.138+8480T>G