Canonical Allele Identifier: CA233190707
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs930390568
gnomAD v3: 12-14507274-G-C
gnomAD v4: 12-14507274-G-C
MyVariant Identifiers: chr12:g.14507274G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507274G>C , CM000674.2:g.14507274G>C GRCh38
NC_000012.11:g.14660208G>C , CM000674.1:g.14660208G>C GRCh37
NC_000012.10:g.14551475G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-156C>G MANE Select ENSP00000240617.5:n.1187-156C>G
ENST00000240617.9:c.1187-156C>G ENSP00000240617.5:n.1187-156C>G
NM_024829.5:c.1187-156C>G NP_079105.4:n.1187-156C>G
NM_024829.6:c.1187-156C>G MANE Select NP_079105.4:n.1187-156C>G
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