Canonical Allele Identifier: CA133346542
Gene:

Linked Data

dbSNP Id: rs996024658

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.465872T>C , CM000668.2:g.465872T>C GRCh38
NC_000006.11:g.465872T>C , CM000668.1:g.465872T>C GRCh37
NC_000006.10:g.410872T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+12147T>C
XR_926365.1:n.2548+12147T>C
XR_001743914.1:n.482-9336T>C