Canonical Allele Identifier: CA1039985175
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695549005
gnomAD v3: 2-182838241-C-T
gnomAD v4: 2-182838241-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838241C>T , CM000664.2:g.182838241C>T GRCh38
NC_000002.11:g.183702969C>T , CM000664.1:g.183702969C>T GRCh37
NC_000002.10:g.183411214C>T NCBI36
NG_017197.1:g.33530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+168G>A MANE Select ENSP00000295113.4:n.797+168G>A
ENST00000295113.4:c.797+168G>A ENSP00000295113.4:n.797+168G>A
NM_001463.3:c.797+168G>A NP_001454.2:n.797+168G>A
NM_001463.4:c.797+168G>A MANE Select NP_001454.2:n.797+168G>A
Search 100 bp 5'
Search 100 bp 3'