Canonical Allele Identifier: CA1059430080

Gene:

Linked Data

• dbSNP Id: rs539816916
• gnomAD v3: 4-12578369-A-G
• gnomAD v4: 4-12578369-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578369A>G , CM000666.2:g.12578369A>G	GRCh38
NC_000004.11:g.12579993A>G , CM000666.1:g.12579993A>G	GRCh37
NC_000004.10:g.12189091A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+30973T>C
XR_001741374.1:n.254+44286T>C
XR_925406.3:n.140+30973T>C