Canonical Allele Identifier: CA1138998450

Gene:

Linked Data

• dbSNP Id: rs2015231660
• gnomAD v3: Y-8556235-T-G
• gnomAD v4: Y-8556235-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8556235T>G , CM000686.2:g.8556235T>G	GRCh38
NC_000024.9:g.8424276T>G , CM000686.1:g.8424276T>G	GRCh37
NC_000024.8:g.8484276T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624593.1:c.*23-6440A>C	ENSP00000485106.1:n.*23-6440A>C