Canonical Allele Identifier: CA4620284
Gene: PPP1R3B HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.9141509C>T
GRCh37 chr8:g.8999019C>T
Revel Score:
ENST00000310455 (MANE Select) 0.058
ENST00000519699 0.058
gnomAD v2:
8:8999019 C / T
gnomAD v3:
8:9141509 C / T
gnomAD v4:
chr8-9141509-C-T
Joint Max Group AF 0.12534238 (SAS)
Genomes Max Group AF 0.13220802 (SAS)
Exomes Max Group AF 0.12452992 (SAS)
dbSNP:
3748140
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9141509C>T , CM000670.2:g.9141509C>T GRCh38
NC_000008.10:g.8999019C>T , CM000670.1:g.8999019C>T GRCh37
NC_000008.9:g.9036429C>T NCBI36
NG_028089.1:g.15134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310455.4:c.143G>A MANE Select ENSP00000308318.3:p.Gly48Glu
ENST00000310455.3:c.143G>A ENSP00000308318.3:p.Gly48Glu
ENST00000519699.1:c.143G>A ENSP00000428642.1:p.Gly48Glu
NM_001201329.1:c.143G>A NP_001188258.1:p.Gly48Glu
NM_024607.3:c.143G>A NP_078883.2:p.Gly48Glu
XM_006716253.2:c.143G>A XP_006716316.1:p.Gly48Glu
XM_011543836.1:c.143G>A XP_011542138.1:p.Gly48Glu
XM_006716253.3:c.143G>A XP_006716316.1:p.Gly48Glu
XM_017013835.1:c.143G>A XP_016869324.1:p.Gly48Glu
NM_024607.4:c.143G>A MANE Select NP_078883.2:p.Gly48Glu
NM_001201329.2:c.143G>A NP_001188258.1:p.Gly48Glu
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