Canonical Allele Identifier: CA2320960037

Gene:

Linked Data

• dbSNP Id: rs1568396866
• gnomAD v4: 19-7522600-G-T

Genomic Alleles

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

Transcript Alleles

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