Canonical Allele Identifier: CA144322596
Gene:

Linked Data

dbSNP Id: rs964928349
gnomAD v3: 6-98128400-G-A
gnomAD v4: 6-98128400-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98128400G>A , CM000668.2:g.98128400G>A GRCh38
NC_000006.11:g.98576276G>A , CM000668.1:g.98576276G>A GRCh37
NC_000006.10:g.98682997G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942809.1:n.456+29130G>A