Canonical Allele Identifier: CA2510969331
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793556T>C , CM000676.2:g.20793556T>C GRCh38
NC_000014.8:g.21261715T>C , CM000676.1:g.21261715T>C GRCh37
NC_000014.7:g.20331555T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+770T>C
XR_943585.1:n.585+770T>C
XR_001750620.1:n.3271+770T>C
XR_001750621.1:n.3271+770T>C
XR_001750622.1:n.637+6348A>G
XR_001750623.1:n.637+6348A>G
XR_001750624.1:n.637+6348A>G