Canonical Allele Identifier: CA191701694
Gene:

Linked Data

dbSNP Id: rs890579839
gnomAD v2: 9-25551327-G-T
gnomAD v3: 9-25551329-G-T
gnomAD v4: 9-25551329-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551329G>T , CM000671.2:g.25551329G>T GRCh38
NC_000009.11:g.25551327G>T , CM000671.1:g.25551327G>T GRCh37
NC_000009.10:g.25541327G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-757C>A
XR_929525.2:n.674-757C>A