Canonical Allele Identifier: CA595318333

Gene:

Linked Data

• dbSNP Id: rs1392256066
• gnomAD v2: 10-96522172-C-T
• gnomAD v3: 10-94762415-C-T
• gnomAD v4: 10-94762415-C-T
• MyVariant Identifiers: chr10:g.96522172C>T (hg19) ; chr10:g.94762415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762415C>T , CM000672.2:g.94762415C>T	GRCh38
NC_000010.10:g.96522172C>T , CM000672.1:g.96522172C>T	GRCh37
NC_000010.9:g.96512162C>T	NCBI36
NG_008384.2:g.4710C>T
NG_008384.3:g.4735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464755.1:c.932-12643C>T	ENSP00000483243.1:n.932-12643C>T