Canonical Allele Identifier: CA6071398
Gene: PLCB3 HGNC NCBI
COSMIC:
COSN15329807 (not active)
MyVariant.info:
GRCh38 chr11:g.64258747C>T
GRCh37 chr11:g.64026219C>T
gnomAD v2:
11:64026219 C / T
gnomAD v3:
11:64258747 C / T
gnomAD v4:
chr11-64258747-C-T
Joint Max Group AF 0.51457302 (EAS)
Genomes Max Group AF 0.52238231 (EAS)
Exomes Max Group AF 0.51177985 (EAS)
dbSNP:
2244621
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64258747C>T , CM000673.2:g.64258747C>T GRCh38
NC_000011.9:g.64026219C>T , CM000673.1:g.64026219C>T GRCh37
NC_000011.8:g.63782795C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000279230.12:c.1253+34C>T MANE Select ENSP00000279230.6:n.1253+34C>T
ENST00000279230.10:c.1253+34C>T ENSP00000279230.6:n.1253+34C>T
ENST00000325234.5:c.1052+34C>T ENSP00000324660.5:n.1052+34C>T
ENST00000540288.5:c.1253+34C>T ENSP00000443631.1:n.1253+34C>T
NM_000932.2:c.1253+34C>T NP_000923.1:n.1253+34C>T
NM_001184883.1:c.1052+34C>T NP_001171812.1:n.1052+34C>T
NM_001316314.1:c.1253+34C>T NP_001303243.1:n.1253+34C>T
XM_011545101.1:c.1253+34C>T XP_011543403.1:n.1253+34C>T
XM_011545101.2:c.1253+34C>T XP_011543403.1:n.1253+34C>T
XM_017017925.2:c.1253+34C>T XP_016873414.1:n.1253+34C>T
NM_000932.3:c.1253+34C>T NP_000923.1:n.1253+34C>T
NM_001184883.2:c.1052+34C>T NP_001171812.1:n.1052+34C>T
NM_001316314.2:c.1253+34C>T NP_001303243.1:n.1253+34C>T
NM_000932.5:c.1253+34C>T MANE Select NP_000923.1:n.1253+34C>T
NM_001316314.3:c.1253+34C>T NP_001303243.1:n.1253+34C>T
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