Canonical Allele Identifier: CA2706101193
Gene:

Linked Data

dbSNP Id: rs2110156217
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228328A>C , CM000666.2:g.54228328A>C GRCh38
NC_000004.11:g.55094495A>C , CM000666.1:g.55094495A>C GRCh37
NC_000004.10:g.54789252A>C NCBI36
NG_009250.1:g.4232A>C , LRG_309:g.4232A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46597A>C ENSP00000423325.1:n.1018-46597A>C
Search 100 bp 5'
Search 100 bp 3'