Canonical Allele Identifier: CA915254494

Gene:

Linked Data

• dbSNP Id: rs1561646904
• gnomAD v2: 6-1536102-C-G
• gnomAD v3: 6-1535867-C-G
• gnomAD v4: 6-1535867-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1535867C>G , CM000668.2:g.1535867C>G	GRCh38
NC_000006.11:g.1536102C>G , CM000668.1:g.1536102C>G	GRCh37
NC_000006.10:g.1481101C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427861.2:n.234+16479G>C
XR_926380.1:n.218-2589C>G
XR_926381.1:n.1108-2589C>G
XR_926382.1:n.235-6688G>C
XR_926384.1:n.200-6688G>C
XR_001743921.1:n.235-6712G>C
XR_427861.3:n.234+16479G>C
XR_926381.2:n.1123-2589C>G