Canonical Allele Identifier: CA788493246
Gene:

Linked Data

dbSNP Id: rs1413427716

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601569A>G , CM000666.2:g.144601569A>G GRCh38
NC_000004.11:g.145522721A>G , CM000666.1:g.145522721A>G GRCh37
NC_000004.10:g.145742171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185591T>C ENSP00000497507.1:n.328-185591T>C