Canonical Allele Identifier: CA587286391
Gene:

Linked Data

dbSNP Id: rs7028097
gnomAD v2: 9-25551490-G-C
gnomAD v3: 9-25551492-G-C
gnomAD v4: 9-25551492-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551492G>C , CM000671.2:g.25551492G>C GRCh38
NC_000009.11:g.25551490G>C , CM000671.1:g.25551490G>C GRCh37
NC_000009.10:g.25541490G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-920C>G
XR_929525.2:n.674-920C>G