Canonical Allele Identifier: CA830264623
Gene:

Linked Data

dbSNP Id: rs1422248747
gnomAD v3: 6-98128381-G-A
gnomAD v4: 6-98128381-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98128381G>A , CM000668.2:g.98128381G>A GRCh38
NC_000006.11:g.98576257G>A , CM000668.1:g.98576257G>A GRCh37
NC_000006.10:g.98682978G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942809.1:n.456+29111G>A