Canonical Allele Identifier: CA1697889712
Gene:

Linked Data

dbSNP Id: rs1584369114

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897503C>A , CM000669.2:g.30897503C>A GRCh38
NC_000007.13:g.30937118C>A , CM000669.1:g.30937118C>A GRCh37
NC_000007.12:g.30903643C>A NCBI36
NG_007475.2:g.49110C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-14490C>A