Canonical Allele Identifier: CA2707218931
Gene:

Linked Data

dbSNP Id: rs1299092078

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601539G>C , CM000666.2:g.144601539G>C GRCh38
NC_000004.11:g.145522691G>C , CM000666.1:g.145522691G>C GRCh37
NC_000004.10:g.145742141G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185561C>G ENSP00000497507.1:n.328-185561C>G