Canonical Allele Identifier: CA191701689
Gene:

Linked Data

dbSNP Id: rs528043674
gnomAD v2: 9-25551263-A-G
gnomAD v3: 9-25551265-A-G
gnomAD v4: 9-25551265-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551265A>G , CM000671.2:g.25551265A>G GRCh38
NC_000009.11:g.25551263A>G , CM000671.1:g.25551263A>G GRCh37
NC_000009.10:g.25541263A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-693T>C
XR_929525.2:n.674-693T>C