Canonical Allele Identifier: CA8602148
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 864484
ClinVar RCV Id: RCV001071688
dbSNP Id: rs373885474
ExAC: 17:42429429 C / T
gnomAD v2: 17-42429429-C-T
gnomAD v3: 17-44352061-C-T
gnomAD v4: 17-44352061-C-T
MyVariant Identifiers: chr17:g.42429429C>T (hg19) chr17:g.44352061C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352061C>T , CM000679.2:g.44352061C>T GRCh38
NC_000017.10:g.42429429C>T , CM000679.1:g.42429429C>T GRCh37
NC_000017.9:g.39784955C>T NCBI36
NG_007886.1:g.11939C>T , LRG_661:g.11939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1226C>T MANE Select ENSP00000053867.2:p.Thr409Met
ENST00000639447.1:c.1136+309C>T ENSP00000492014.1:n.1136+309C>T
ENST00000053867.7:c.1226C>T ENSP00000053867.2:p.Thr409Met
ENST00000586443.1:c.667C>T
ENST00000589265.5:c.755C>T ENSP00000467616.1:p.Thr252Met
NM_002087.3:c.1226C>T NP_002078.1:p.Thr409Met
XM_005257253.1:c.1226C>T XP_005257310.1:p.Thr409Met
XM_024450730.1:c.1226C>T XP_024306498.1:p.Thr409Met
NM_002087.4:c.1226C>T MANE Select NP_002078.1:p.Thr409Met
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