Canonical Allele Identifier: CA191701699
Gene:

Linked Data

dbSNP Id: rs534310932
gnomAD v2: 9-25551368-C-T
gnomAD v3: 9-25551370-C-T
gnomAD v4: 9-25551370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551370C>T , CM000671.2:g.25551370C>T GRCh38
NC_000009.11:g.25551368C>T , CM000671.1:g.25551368C>T GRCh37
NC_000009.10:g.25541368C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-798G>A
XR_929525.2:n.674-798G>A