Canonical Allele Identifier: CA1078753699
Gene:

Linked Data

dbSNP Id: rs1744564087
gnomAD v3: 5-92222771-A-G
gnomAD v4: 5-92222771-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222771A>G , CM000667.2:g.92222771A>G GRCh38
NC_000005.9:g.91518588A>G , CM000667.1:g.91518588A>G GRCh37
NC_000005.8:g.91554344A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18087A>G