Canonical Allele Identifier: CA1127875718

Gene:

Linked Data

• dbSNP Id: rs1826975692
• gnomAD v3: 9-108092976-A-C
• gnomAD v4: 9-108092976-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108092976A>C , CM000671.2:g.108092976A>C	GRCh38
NC_000009.11:g.110855257A>C , CM000671.1:g.110855257A>C	GRCh37
NC_000009.10:g.109895078A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930239.1:n.461-39682T>G
XR_001746881.1:n.668-39682T>G
XR_001746882.1:n.668-39682T>G