Canonical Allele Identifier: CA1595159293
Gene:

Linked Data

dbSNP Id: rs1757452066

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580863G>A , CM000667.2:g.159580863G>A GRCh38
NC_000005.9:g.159007871G>A , CM000667.1:g.159007871G>A GRCh37
NC_000005.8:g.158940449G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941139.1:n.2075+428G>A
XR_941140.1:n.2075+428G>A
XR_941141.1:n.570+428G>A
XR_941139.2:n.2229+428G>A