Canonical Allele Identifier: CA1796404066

Gene:

Linked Data

• dbSNP Id: rs1810029598
• gnomAD v3: 8-79191136-A-G
• gnomAD v4: 8-79191136-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191136A>G , CM000670.2:g.79191136A>G	GRCh38
NC_000008.10:g.80103371A>G , CM000670.1:g.80103371A>G	GRCh37
NC_000008.9:g.80265926A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+765A>G