Canonical Allele Identifier: CA11068457
Gene:

Linked Data

dbSNP Id: rs1367226
gnomAD v2: 2-56089540-A-G
gnomAD v3: 2-55862405-A-G
gnomAD v4: 2-55862405-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55862405A>G , CM000664.2:g.55862405A>G GRCh38
NC_000002.11:g.56089540A>G , CM000664.1:g.56089540A>G GRCh37
NC_000002.10:g.55943044A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940108.1:n.229-11478A>G
XR_002959388.1:n.229-11478A>G