Canonical Allele Identifier: CA2558110480
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668507T>C , CM000668.2:g.160668507T>C GRCh38
NC_000006.11:g.161089539T>C , CM000668.1:g.161089539T>C GRCh37
NC_000006.10:g.161009529T>C NCBI36
NG_016147.1:g.2869A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2134A>G