Canonical Allele Identifier: CA837548496

Gene:

Linked Data

• dbSNP Id: rs1300057544
• MyVariant Identifiers: chr7:g.30951146A>T (hg19) ; chr7:g.30911531A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911531A>T , CM000669.2:g.30911531A>T	GRCh38
NC_000007.13:g.30951146A>T , CM000669.1:g.30951146A>T	GRCh37
NC_000007.12:g.30917671A>T	NCBI36
NG_007475.2:g.63138A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-462A>T