Canonical Allele Identifier: CA1092269973
Gene:

Linked Data

dbSNP Id: rs112211349
gnomAD v3: 6-98102508-T-A
gnomAD v4: 6-98102508-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102508T>A , CM000668.2:g.98102508T>A GRCh38
NC_000006.11:g.98550384T>A , CM000668.1:g.98550384T>A GRCh37
NC_000006.10:g.98657105T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3238T>A
XR_942809.1:n.456+3238T>A