Canonical Allele Identifier: CA107748702
Gene:

Linked Data

dbSNP Id: rs1011885404

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559564A>T , CM000666.2:g.144559564A>T GRCh38
NC_000004.11:g.145480716A>T , CM000666.1:g.145480716A>T GRCh37
NC_000004.10:g.145700166A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000649263.1:c.328-143586T>A ENSP00000497507.1:n.328-143586T>A
XR_939272.1:n.178+2420T>A
XR_939273.1:n.178+2420T>A
XR_939272.2:n.522+2420T>A
XR_939273.2:n.522+2420T>A