Canonical Allele Identifier: CA8602101
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 805121
ClinVar RCV Id: RCV000992525 RCV002550640 RCV001869374
dbSNP Id: rs149023078
ExAC: 17:42429096 G / C
gnomAD v2: 17-42429096-G-C
gnomAD v3: 17-44351728-G-C
gnomAD v4: 17-44351728-G-C
MyVariant Identifiers: chr17:g.42429096G>C (hg19) chr17:g.44351728G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351728G>C , CM000679.2:g.44351728G>C GRCh38
NC_000017.10:g.42429096G>C , CM000679.1:g.42429096G>C GRCh37
NC_000017.9:g.39784622G>C NCBI36
NG_007886.1:g.11606G>C , LRG_661:g.11606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1112G>C MANE Select ENSP00000053867.2:p.Ser371Thr
ENST00000639447.1:c.1112G>C ENSP00000492014.1:p.Ser371Thr
ENST00000053867.7:c.1112G>C ENSP00000053867.2:p.Ser371Thr
ENST00000586443.1:c.553G>C
ENST00000589265.5:c.641G>C ENSP00000467616.1:p.Ser214Thr
ENST00000589923.1:n.370G>C
NM_002087.3:c.1112G>C NP_002078.1:p.Ser371Thr
XM_005257253.1:c.1112G>C XP_005257310.1:p.Ser371Thr
XM_024450730.1:c.1112G>C XP_024306498.1:p.Ser371Thr
NM_002087.4:c.1112G>C MANE Select NP_002078.1:p.Ser371Thr
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