Canonical Allele Identifier: CA1697889673
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897418C= , CM000669.2:g.30897418C= GRCh38
NC_000007.13:g.30937033C= , CM000669.1:g.30937033C= GRCh37
NC_000007.12:g.30903558C= NCBI36
NG_007475.2:g.49025C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14425C=