Canonical Allele Identifier: CA835018757

Gene:

Linked Data

• dbSNP Id: rs1444999339
• MyVariant Identifiers: chr7:g.148504322T>C (hg19) ; chr7:g.148807230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807230T>C , CM000669.2:g.148807230T>C	GRCh38
NC_000007.13:g.148504322T>C , CM000669.1:g.148504322T>C	GRCh37
NC_000007.12:g.148135255T>C	NCBI36
NG_032043.1:g.82120A>G , LRG_531:g.82120A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2145T>C
XR_928102.1:n.722+2145T>C