Canonical Allele Identifier: CA399765231
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2187565
ClinVar RCV Id: RCV002615860
dbSNP Id: rs1419118801
gnomAD v2: 17-42428982-G-T
gnomAD v3: 17-44351614-G-T
gnomAD v4: 17-44351614-G-T
MyVariant Identifiers: chr17:g.42428982G>T (hg19) chr17:g.44351614G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351614G>T , CM000679.2:g.44351614G>T GRCh38
NC_000017.10:g.42428982G>T , CM000679.1:g.42428982G>T GRCh37
NC_000017.9:g.39784508G>T NCBI36
NG_007886.1:g.11492G>T , LRG_661:g.11492G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.998G>T MANE Select ENSP00000053867.2:p.Gly333Val
ENST00000639447.1:c.998G>T ENSP00000492014.1:p.Gly333Val
ENST00000053867.7:c.998G>T ENSP00000053867.2:p.Gly333Val
ENST00000586443.1:c.439G>T
ENST00000589265.5:c.527G>T ENSP00000467616.1:p.Gly176Val
ENST00000589923.1:n.256G>T
NM_002087.3:c.998G>T NP_002078.1:p.Gly333Val
XM_005257253.1:c.998G>T XP_005257310.1:p.Gly333Val
XM_024450730.1:c.998G>T XP_024306498.1:p.Gly333Val
NM_002087.4:c.998G>T MANE Select NP_002078.1:p.Gly333Val
Search 100 bp 5'
Search 100 bp 3'