Canonical Allele Identifier: CA174724
Gene: MTBP HGNC NCBI

Linked Data

ClinVar Variation Id: 161754
ClinVar RCV Id: RCV000149290
dbSNP Id: rs193921136
ExAC: 8:121530224 A / G
gnomAD v2: 8-121530224-A-G
gnomAD v3: 8-120517984-A-G
gnomAD v4: 8-120517984-A-G
COSMIC: COSM1179578
MyVariant Identifiers: chr8:g.121530224A>G (hg19) chr8:g.120517984A>G (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120517984A>G , CM000670.2:g.120517984A>G GRCh38
NC_000008.10:g.121530224A>G , CM000670.1:g.121530224A>G GRCh37
NC_000008.9:g.121599405A>G NCBI36
NG_033151.1:g.77587A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305949.6:c.2380A>G MANE Select ENSP00000303398.1:p.Ile794Val
ENST00000305949.5:c.2380A>G ENSP00000303398.1:p.Ile794Val
NM_022045.4:c.2380A>G NP_071328.2:p.Ile794Val
NM_022045.5:c.2380A>G MANE Select NP_071328.2:p.Ile794Val
Search 100 bp 5'
Search 100 bp 3'