Canonical Allele Identifier: CA977194924

Gene:

Linked Data

• dbSNP Id: rs1485631565
• gnomAD v3: 16-50109048-T-G
• gnomAD v4: 16-50109048-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109048T>G , CM000678.2:g.50109048T>G	GRCh38
NC_000016.9:g.50142959T>G , CM000678.1:g.50142959T>G	GRCh37
NC_000016.8:g.48700460T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2396A>C	XP_011521792.1:n.115-2396A>C