Canonical Allele Identifier: CA122895945
Gene:

Linked Data

dbSNP Id: rs968555738
gnomAD v3: 5-92222767-G-A
gnomAD v4: 5-92222767-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222767G>A , CM000667.2:g.92222767G>A GRCh38
NC_000005.9:g.91518584G>A , CM000667.1:g.91518584G>A GRCh37
NC_000005.8:g.91554340G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18083G>A