Canonical Allele Identifier: CA2662236343
Gene: FRZB HGNC NCBI

Linked Data

gnomAD v4: 2-182838275-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838275T>A , CM000664.2:g.182838275T>A GRCh38
NC_000002.11:g.183703003T>A , CM000664.1:g.183703003T>A GRCh37
NC_000002.10:g.183411248T>A NCBI36
NG_017197.1:g.33496A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+134A>T MANE Select ENSP00000295113.4:n.797+134A>T
ENST00000295113.4:c.797+134A>T ENSP00000295113.4:n.797+134A>T
NM_001463.3:c.797+134A>T NP_001454.2:n.797+134A>T
NM_001463.4:c.797+134A>T MANE Select NP_001454.2:n.797+134A>T
Search 100 bp 5'
Search 100 bp 3'