Canonical Allele Identifier: CA12419937
Gene:

Linked Data

dbSNP Id: rs62422663
gnomAD v2: 6-98550406-G-A
gnomAD v3: 6-98102530-G-A
gnomAD v4: 6-98102530-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102530G>A , CM000668.2:g.98102530G>A GRCh38
NC_000006.11:g.98550406G>A , CM000668.1:g.98550406G>A GRCh37
NC_000006.10:g.98657127G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3260G>A
XR_942809.1:n.456+3260G>A