Canonical Allele Identifier: CA788493110
Gene:

Linked Data

dbSNP Id: rs1250511265

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601412A>C , CM000666.2:g.144601412A>C GRCh38
NC_000004.11:g.145522564A>C , CM000666.1:g.145522564A>C GRCh37
NC_000004.10:g.145742014A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185434T>G ENSP00000497507.1:n.328-185434T>G