Canonical Allele Identifier: CA8602086
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 892180
ClinVar RCV Id: RCV001128039 RCV001856672 RCV002365806
dbSNP Id: rs775196555
ExAC: 17:42429003 A / T
gnomAD v2: 17-42429003-A-T
gnomAD v3: 17-44351635-A-T
gnomAD v4: 17-44351635-A-T
MyVariant Identifiers: chr17:g.42429003A>T (hg19) chr17:g.44351635A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351635A>T , CM000679.2:g.44351635A>T GRCh38
NC_000017.10:g.42429003A>T , CM000679.1:g.42429003A>T GRCh37
NC_000017.9:g.39784529A>T NCBI36
NG_007886.1:g.11513A>T , LRG_661:g.11513A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1019A>T MANE Select ENSP00000053867.2:p.His340Leu
ENST00000639447.1:c.1019A>T ENSP00000492014.1:p.His340Leu
ENST00000053867.7:c.1019A>T ENSP00000053867.2:p.His340Leu
ENST00000586443.1:c.460A>T
ENST00000589265.5:c.548A>T ENSP00000467616.1:p.His183Leu
ENST00000589923.1:n.277A>T
NM_002087.3:c.1019A>T NP_002078.1:p.His340Leu
XM_005257253.1:c.1019A>T XP_005257310.1:p.His340Leu
XM_024450730.1:c.1019A>T XP_024306498.1:p.His340Leu
NM_002087.4:c.1019A>T MANE Select NP_002078.1:p.His340Leu
Search 100 bp 5'
Search 100 bp 3'