Canonical Allele Identifier: CA841571738
Gene:

Linked Data

dbSNP Id: rs1209149369
gnomAD v3: 7-69147048-T-G
gnomAD v4: 7-69147048-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147048T>G , CM000669.2:g.69147048T>G GRCh38
NC_000007.13:g.68612035T>G , CM000669.1:g.68612035T>G GRCh37
NC_000007.12:g.68249971T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-922A>C