Canonical Allele Identifier: CA2320960044

Gene:

Linked Data

• dbSNP Id: rs1568396872
• gnomAD v4: 19-7522606-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7522606G>T , CM000681.2:g.7522606G>T	GRCh38
NC_000019.9:g.7587492G>T , CM000681.1:g.7587492G>T	GRCh37
NC_000019.8:g.7493492G>T	NCBI36
NG_015806.1:g.4997G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_936293.1:n.926+236C>A
XR_936294.1:n.926+236C>A
XR_936295.1:n.570+236C>A
XR_936293.2:n.952+236C>A
XR_936294.2:n.952+236C>A