Canonical Allele Identifier: CA144319778
Gene:

Linked Data

dbSNP Id: rs895165225
gnomAD v2: 6-98550309-G-A
gnomAD v3: 6-98102433-G-A
gnomAD v4: 6-98102433-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102433G>A , CM000668.2:g.98102433G>A GRCh38
NC_000006.11:g.98550309G>A , CM000668.1:g.98550309G>A GRCh37
NC_000006.10:g.98657030G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.456+3163G>A
XR_942809.1:n.456+3163G>A