Canonical Allele Identifier: CA168905154

Gene:

Linked Data

• dbSNP Id: rs980998006
• MyVariant Identifiers: chr7:g.148504334T>A (hg19) ; chr7:g.148807242T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807242T>A , CM000669.2:g.148807242T>A	GRCh38
NC_000007.13:g.148504334T>A , CM000669.1:g.148504334T>A	GRCh37
NC_000007.12:g.148135267T>A	NCBI36
NG_032043.1:g.82108A>T , LRG_531:g.82108A>T

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2157T>A
XR_928102.1:n.722+2157T>A