Canonical Allele Identifier: CA2707428399
Gene:

Linked Data

dbSNP Id: rs2126510695
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559230T>G , CM000666.2:g.144559230T>G GRCh38
NC_000004.11:g.145480382T>G , CM000666.1:g.145480382T>G GRCh37
NC_000004.10:g.145699832T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143252A>C ENSP00000497507.1:n.328-143252A>C
XR_939272.1:n.178+2754A>C
XR_939273.1:n.178+2754A>C
XR_939272.2:n.522+2754A>C
XR_939273.2:n.522+2754A>C
Search 100 bp 5'
Search 100 bp 3'