Canonical Allele Identifier: CA1138950834

Gene:

Linked Data

• dbSNP Id: rs2015462622
• gnomAD v3: Y-8746142-A-G
• gnomAD v4: Y-8746142-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8746142A>G , CM000686.2:g.8746142A>G	GRCh38
NC_000024.9:g.8614183A>G , CM000686.1:g.8614183A>G	GRCh37
NC_000024.8:g.8674183A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624593.1:c.-57+2574T>C	ENSP00000485106.1:n.-57+2574T>C