Canonical Allele Identifier: CA1697889658
Gene:

Linked Data

dbSNP Id: rs1790894595

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897374T>A , CM000669.2:g.30897374T>A GRCh38
NC_000007.13:g.30936989T>A , CM000669.1:g.30936989T>A GRCh37
NC_000007.12:g.30903514T>A NCBI36
NG_007475.2:g.48981T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14381T>A