Canonical Allele Identifier: CA8602088
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2622166
ClinVar RCV Id: RCV003386780
dbSNP Id: rs768456085
ExAC: 17:42429009 T / C
gnomAD v2: 17-42429009-T-C
gnomAD v4: 17-44351641-T-C
MyVariant Identifiers: chr17:g.42429009T>C (hg19) chr17:g.44351641T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351641T>C , CM000679.2:g.44351641T>C GRCh38
NC_000017.10:g.42429009T>C , CM000679.1:g.42429009T>C GRCh37
NC_000017.9:g.39784535T>C NCBI36
NG_007886.1:g.11519T>C , LRG_661:g.11519T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1025T>C MANE Select ENSP00000053867.2:p.Val342Ala
ENST00000639447.1:c.1025T>C ENSP00000492014.1:p.Val342Ala
ENST00000053867.7:c.1025T>C ENSP00000053867.2:p.Val342Ala
ENST00000586443.1:c.466T>C
ENST00000589265.5:c.554T>C ENSP00000467616.1:p.Val185Ala
ENST00000589923.1:n.283T>C
NM_002087.3:c.1025T>C NP_002078.1:p.Val342Ala
XM_005257253.1:c.1025T>C XP_005257310.1:p.Val342Ala
XM_024450730.1:c.1025T>C XP_024306498.1:p.Val342Ala
NM_002087.4:c.1025T>C MANE Select NP_002078.1:p.Val342Ala
Search 100 bp 5'
Search 100 bp 3'