Canonical Allele Identifier: CA862568042
Gene:

Linked Data

dbSNP Id: rs1478364690
gnomAD v3: 9-25551204-C-G
gnomAD v4: 9-25551204-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551204C>G , CM000671.2:g.25551204C>G GRCh38
NC_000009.11:g.25551202C>G , CM000671.1:g.25551202C>G GRCh37
NC_000009.10:g.25541202C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-632G>C
XR_929525.2:n.674-632G>C