Canonical Allele Identifier: CA191701700
Gene:

Linked Data

dbSNP Id: rs185620911
gnomAD v2: 9-25551369-G-A
gnomAD v3: 9-25551371-G-A
gnomAD v4: 9-25551371-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551371G>A , CM000671.2:g.25551371G>A GRCh38
NC_000009.11:g.25551369G>A , CM000671.1:g.25551369G>A GRCh37
NC_000009.10:g.25541369G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-799C>T
XR_929525.2:n.674-799C>T