Canonical Allele Identifier: CA830285558
Gene:

Linked Data

dbSNP Id: rs1198416267
gnomAD v3: 6-98102429-G-A
gnomAD v4: 6-98102429-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102429G>A , CM000668.2:g.98102429G>A GRCh38
NC_000006.11:g.98550305G>A , CM000668.1:g.98550305G>A GRCh37
NC_000006.10:g.98657026G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.456+3159G>A
XR_942809.1:n.456+3159G>A