Canonical Allele Identifier: CA2320960036
Gene:

Linked Data

dbSNP Id: rs1568396866
gnomAD v4: 19-7522600-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522600G>A , CM000681.2:g.7522600G>A GRCh38
NC_000019.9:g.7587486G>A , CM000681.1:g.7587486G>A GRCh37
NC_000019.8:g.7493486G>A NCBI36
NG_015806.1:g.4991G>A

Transcript Alleles

HGVS Amino-acid Change
XR_936293.1:n.926+242C>T
XR_936294.1:n.926+242C>T
XR_936295.1:n.570+242C>T
XR_936293.2:n.952+242C>T
XR_936294.2:n.952+242C>T