Canonical Allele Identifier: CA12449598
Gene: PPP1R14C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.150249731A>G
GRCh37 chr6:g.150570867A>G
gnomAD v2:
6:150570867 A / G
gnomAD v3:
6:150249731 A / G
gnomAD v4:
chr6-150249731-A-G
Joint Max Group AF 0.09444748 (EAS)
Genomes Max Group AF 0.09478451 (EAS)
Exomes Max Group AF 0.09312139 (EAS)
dbSNP:
3734729
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150249731A>G , CM000668.2:g.150249731A>G GRCh38
NC_000006.11:g.150570867A>G , CM000668.1:g.150570867A>G GRCh37
NC_000006.10:g.150612560A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361131.5:c.*911A>G MANE Select ENSP00000355260.4:n.*911A>G
ENST00000361131.4:c.*911A>G ENSP00000355260.4:n.*911A>G
NM_030949.2:c.*911A>G NP_112211.1:n.*911A>G
XM_005267152.3:c.*911A>G XP_005267209.1:n.*911A>G
XM_005267152.5:c.*911A>G XP_005267209.1:n.*911A>G
NM_030949.3:c.*911A>G MANE Select NP_112211.1:n.*911A>G
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