Canonical Allele Identifier: CA1458504909
Gene:

Linked Data

dbSNP Id: rs1720490016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228587C>T , CM000666.2:g.54228587C>T GRCh38
NC_000004.11:g.55094754C>T , CM000666.1:g.55094754C>T GRCh37
NC_000004.10:g.54789511C>T NCBI36
NG_009250.1:g.4491C>T , LRG_309:g.4491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46338C>T ENSP00000423325.1:n.1018-46338C>T
Search 100 bp 5'
Search 100 bp 3'