Canonical Allele Identifier: CA587286392
Gene:

Linked Data

dbSNP Id: rs1232942954
gnomAD v2: 9-25551494-T-C
gnomAD v3: 9-25551496-T-C
gnomAD v4: 9-25551496-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551496T>C , CM000671.2:g.25551496T>C GRCh38
NC_000009.11:g.25551494T>C , CM000671.1:g.25551494T>C GRCh37
NC_000009.10:g.25541494T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-924A>G
XR_929525.2:n.674-924A>G