Canonical Allele Identifier: CA595318343

Gene:

Linked Data

• dbSNP Id: rs1231825042
• gnomAD v2: 10-96522215-G-T
• MyVariant Identifiers: chr10:g.96522215G>T (hg19) ; chr10:g.94762458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762458G>T , CM000672.2:g.94762458G>T	GRCh38
NC_000010.10:g.96522215G>T , CM000672.1:g.96522215G>T	GRCh37
NC_000010.9:g.96512205G>T	NCBI36
NG_008384.2:g.4753G>T
NG_008384.3:g.4778G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12600G>T	ENSP00000483243.1:n.932-12600G>T