Canonical Allele Identifier: CA1148699777
Gene:

Linked Data

dbSNP Id: rs1258562307
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817293C>G , CM000663.2:g.817293C>G GRCh38
NC_000001.10:g.752673C>G , CM000663.1:g.752673C>G GRCh37
NC_000001.9:g.742536C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10377G>C
ENST00000635509.2:n.100+10377G>C
ENST00000447500.4:n.340+80G>C
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