Canonical Allele Identifier: CA1697889660
Gene:

Linked Data

dbSNP Id: rs1790894625

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897382A>G , CM000669.2:g.30897382A>G GRCh38
NC_000007.13:g.30936997A>G , CM000669.1:g.30936997A>G GRCh37
NC_000007.12:g.30903522A>G NCBI36
NG_007475.2:g.48989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14389A>G