Canonical Allele Identifier: CA1035505997

Gene:

Linked Data

• dbSNP Id: rs1678006970
• gnomAD v3: 2-118079625-T-C
• gnomAD v4: 2-118079625-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079625T>C , CM000664.2:g.118079625T>C	GRCh38
NC_000002.11:g.118837201T>C , CM000664.1:g.118837201T>C	GRCh37
NC_000002.10:g.118553671T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2093A>G	XP_011510607.1:n.697-2093A>G
XR_001739662.2:n.138+8626A>G