Canonical Allele Identifier: CA191701686
Gene:

Linked Data

dbSNP Id: rs1004832563
gnomAD v3: 9-25551244-C-G
gnomAD v4: 9-25551244-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551244C>G , CM000671.2:g.25551244C>G GRCh38
NC_000009.11:g.25551242C>G , CM000671.1:g.25551242C>G GRCh37
NC_000009.10:g.25541242C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-672G>C
XR_929525.2:n.674-672G>C