Canonical Allele Identifier: CA1697889667
Gene:

Linked Data

dbSNP Id: rs1308725018

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897403C>G , CM000669.2:g.30897403C>G GRCh38
NC_000007.13:g.30937018C>G , CM000669.1:g.30937018C>G GRCh37
NC_000007.12:g.30903543C>G NCBI36
NG_007475.2:g.49010C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14410C>G