Canonical Allele Identifier: CA225339
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 98181
ClinVar RCV Id: RCV000084484 RCV001122277 RCV001086557 RCV002381408 RCV004549524
dbSNP Id: rs63750775
ExAC: 17:42429544 C / T
gnomAD v2: 17-42429544-C-T
gnomAD v3: 17-44352176-C-T
gnomAD v4: 17-44352176-C-T
MyVariant Identifiers: chr17:g.42429544C>T (hg19) chr17:g.44352176C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352176C>T , CM000679.2:g.44352176C>T GRCh38
NC_000017.10:g.42429544C>T , CM000679.1:g.42429544C>T GRCh37
NC_000017.9:g.39785070C>T NCBI36
NG_007886.1:g.12054C>T , LRG_661:g.12054C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1341C>T MANE Select ENSP00000053867.2:p.His447=
ENST00000639447.1:c.1137-353C>T ENSP00000492014.1:n.1137-353C>T
ENST00000053867.7:c.1341C>T ENSP00000053867.2:p.His447=
ENST00000586443.1:c.782C>T
ENST00000589265.5:c.870C>T ENSP00000467616.1:p.His290=
NM_002087.3:c.1341C>T NP_002078.1:p.His447=
XM_005257253.1:c.1341C>T XP_005257310.1:p.His447=
XM_024450730.1:c.1341C>T XP_024306498.1:p.His447=
NM_002087.4:c.1341C>T MANE Select NP_002078.1:p.His447=
Search 100 bp 5'
Search 100 bp 3'