Canonical Allele Identifier: CA8663187
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2200452
ClinVar RCV Id: RCV002654724
dbSNP Id: rs371150691
ExAC: 17:54671922 C / T
gnomAD v2: 17-54671922-C-T
gnomAD v3: 17-56594561-C-T
gnomAD v4: 17-56594561-C-T
MyVariant Identifiers: chr17:g.54671922C>T (hg19) chr17:g.56594561C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594561C>T , CM000679.2:g.56594561C>T GRCh38
NC_000017.10:g.54671922C>T , CM000679.1:g.54671922C>T GRCh37
NC_000017.9:g.52026921C>T NCBI36
NG_011958.1:g.5863C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.338C>T MANE Select ENSP00000328181.4:p.Ser113Leu
ENST00000332822.4:c.338C>T ENSP00000328181.4:p.Ser113Leu
NM_005450.4:c.338C>T NP_005441.1:p.Ser113Leu
NM_005450.6:c.338C>T MANE Select NP_005441.1:p.Ser113Leu
Search 100 bp 5'
Search 100 bp 3'