Canonical Allele Identifier: CA994936020

Gene:

Linked Data

• dbSNP Id: rs2011164858
• gnomAD v3: 19-28544675-A-G
• gnomAD v4: 19-28544675-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.28544675A>G , CM000681.2:g.28544675A>G	GRCh38
NC_000019.9:g.29035582A>G , CM000681.1:g.29035582A>G	GRCh37
NC_000019.8:g.33727422A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110759.1:n.657-77895T>C
XR_243979.1:n.110-51652T>C