Canonical Allele Identifier: CA1458504755
Gene:

Linked Data

dbSNP Id: rs1577658330
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228411T>G , CM000666.2:g.54228411T>G GRCh38
NC_000004.11:g.55094578T>G , CM000666.1:g.55094578T>G GRCh37
NC_000004.10:g.54789335T>G NCBI36
NG_009250.1:g.4315T>G , LRG_309:g.4315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46514T>G ENSP00000423325.1:n.1018-46514T>G
Search 100 bp 5'
Search 100 bp 3'