Canonical Allele Identifier: CA6462496
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs765945954
ExAC: 12:14659915 C / T
gnomAD v2: 12-14659915-C-T
gnomAD v4: 12-14506981-C-T
COSMIC: COSM5840642
MyVariant Identifiers: chr12:g.14659915C>T (hg19) chr12:g.14506981C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506981C>T , CM000674.2:g.14506981C>T GRCh38
NC_000012.11:g.14659915C>T , CM000674.1:g.14659915C>T GRCh37
NC_000012.10:g.14551182C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1324G>A MANE Select ENSP00000240617.5:p.Gly442Arg
ENST00000240617.9:c.1324G>A ENSP00000240617.5:p.Gly442Arg
NM_024829.5:c.1324G>A NP_079105.4:p.Gly442Arg
NM_024829.6:c.1324G>A MANE Select NP_079105.4:p.Gly442Arg
Search 100 bp 5'
Search 100 bp 3'