Canonical Allele Identifier: CA1697889664
Gene:

Linked Data

dbSNP Id: rs996120380
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897397C>A , CM000669.2:g.30897397C>A GRCh38
NC_000007.13:g.30937012C>A , CM000669.1:g.30937012C>A GRCh37
NC_000007.12:g.30903537C>A NCBI36
NG_007475.2:g.49004C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14404C>A
Search 100 bp 5'
Search 100 bp 3'