Canonical Allele Identifier: CA337596178
Gene:

Linked Data

dbSNP Id: rs35604181
gnomAD v3: Y-7848221-A-C
gnomAD v4: Y-7848221-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7848221A>C , CM000686.2:g.7848221A>C GRCh38
NC_000024.9:g.7716262A>C , CM000686.1:g.7716262A>C GRCh37
NC_000024.8:g.7776262A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938644.1:n.69+10469T>G
XR_938644.2:n.69+10469T>G