Canonical Allele Identifier: CA931367363

Gene:

Linked Data

• dbSNP Id: rs1564656803
• gnomAD v3: 10-94762498-G-T
• gnomAD v4: 10-94762498-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762498G>T , CM000672.2:g.94762498G>T	GRCh38
NC_000010.10:g.96522255G>T , CM000672.1:g.96522255G>T	GRCh37
NC_000010.9:g.96512245G>T	NCBI36
NG_008384.2:g.4793G>T
NG_008384.3:g.4818G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12560G>T	ENSP00000483243.1:n.932-12560G>T