Canonical Allele Identifier: CA500622335
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2421105
ClinVar RCV Id: RCV003112765
dbSNP Id: rs1189090748
gnomAD v2: 17-42429547-C-T
gnomAD v4: 17-44352179-C-T
MyVariant Identifiers: chr17:g.42429547C>T (hg19) chr17:g.44352179C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352179C>T , CM000679.2:g.44352179C>T GRCh38
NC_000017.10:g.42429547C>T , CM000679.1:g.42429547C>T GRCh37
NC_000017.9:g.39785073C>T NCBI36
NG_007886.1:g.12057C>T , LRG_661:g.12057C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1344C>T MANE Select ENSP00000053867.2:p.Thr448=
ENST00000639447.1:c.1137-350C>T ENSP00000492014.1:n.1137-350C>T
ENST00000053867.7:c.1344C>T ENSP00000053867.2:p.Thr448=
ENST00000586443.1:c.785C>T
ENST00000589265.5:c.873C>T ENSP00000467616.1:p.Thr291=
NM_002087.3:c.1344C>T NP_002078.1:p.Thr448=
XM_005257253.1:c.1344C>T XP_005257310.1:p.Thr448=
XM_024450730.1:c.1344C>T XP_024306498.1:p.Thr448=
NM_002087.4:c.1344C>T MANE Select NP_002078.1:p.Thr448=
Search 100 bp 5'
Search 100 bp 3'