Canonical Allele Identifier: CA1677169907
Gene:

Linked Data

dbSNP Id: rs1780348804

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668515G>A , CM000668.2:g.160668515G>A GRCh38
NC_000006.11:g.161089547G>A , CM000668.1:g.161089547G>A GRCh37
NC_000006.10:g.161009537G>A NCBI36
NG_016147.1:g.2861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2142C>T