Canonical Allele Identifier: CA1500739491
Gene:

Linked Data

dbSNP Id: rs2353398

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601606T>C , CM000666.2:g.144601606T>C GRCh38
NC_000004.11:g.145522758T>C , CM000666.1:g.145522758T>C GRCh37
NC_000004.10:g.145742208T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000649263.1:c.328-185628A>G ENSP00000497507.1:n.328-185628A>G