Canonical Allele Identifier: CA2122202276
Gene:

Linked Data

dbSNP Id: rs1879070000

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793553C>A , CM000676.2:g.20793553C>A GRCh38
NC_000014.8:g.21261712C>A , CM000676.1:g.21261712C>A GRCh37
NC_000014.7:g.20331552C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943584.1:n.585+767C>A
XR_943585.1:n.585+767C>A
XR_001750620.1:n.3271+767C>A
XR_001750621.1:n.3271+767C>A
XR_001750622.1:n.637+6351G>T
XR_001750623.1:n.637+6351G>T
XR_001750624.1:n.637+6351G>T