Canonical Allele Identifier: CA11990036
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs10475598

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174221435T>C , CM000667.2:g.174221435T>C GRCh38
NC_000005.9:g.173648438T>C , CM000667.1:g.173648438T>C GRCh37
NC_000005.8:g.173581044T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000521585.5:c.*18+16131T>C ENSP00000429863.1:p.=