Canonical Allele Identifier: CA1122483609
Gene:

Linked Data

dbSNP Id: rs542220789
gnomAD v3: 9-25551432-C-G
gnomAD v4: 9-25551432-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551432C>G , CM000671.2:g.25551432C>G GRCh38
NC_000009.11:g.25551430C>G , CM000671.1:g.25551430C>G GRCh37
NC_000009.10:g.25541430C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-860G>C
XR_929525.2:n.674-860G>C
Search 100 bp 5'
Search 100 bp 3'