Canonical Allele Identifier: CA2676270305
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580584T>C , CM000667.2:g.159580584T>C GRCh38
NC_000005.9:g.159007592T>C , CM000667.1:g.159007592T>C GRCh37
NC_000005.8:g.158940170T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+149T>C
XR_941140.1:n.2075+149T>C
XR_941141.1:n.570+149T>C
XR_941139.2:n.2229+149T>C