Canonical Allele Identifier: CA6462498
Gene: PLBD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2208042
ClinVar RCV Id: RCV004070062
dbSNP Id: rs759241417
ExAC: 12:14659923 C / T
gnomAD v2: 12-14659923-C-T
gnomAD v3: 12-14506989-C-T
gnomAD v4: 12-14506989-C-T
COSMIC: COSM4040554
MyVariant Identifiers: chr12:g.14659923C>T (hg19) chr12:g.14506989C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506989C>T , CM000674.2:g.14506989C>T GRCh38
NC_000012.11:g.14659923C>T , CM000674.1:g.14659923C>T GRCh37
NC_000012.10:g.14551190C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1316G>A MANE Select ENSP00000240617.5:p.Arg439His
ENST00000240617.9:c.1316G>A ENSP00000240617.5:p.Arg439His
NM_024829.5:c.1316G>A NP_079105.4:p.Arg439His
NM_024829.6:c.1316G>A MANE Select NP_079105.4:p.Arg439His
Search 100 bp 5'
Search 100 bp 3'