Canonical Allele Identifier: CA3002404
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs777194280
ExAC: 4:88732614 T / G
gnomAD v2: 4-88732614-T-G
gnomAD v4: 4-87811462-T-G
MyVariant Identifiers: chr4:g.88732614T>G (hg19) chr4:g.87811462T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811462T>G , CM000666.2:g.87811462T>G GRCh38
NC_000004.11:g.88732614T>G , CM000666.1:g.88732614T>G GRCh37
NC_000004.10:g.88951638T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.506T>G MANE Select ENSP00000226284.5:p.Val169Gly
ENST00000226284.6:c.506T>G ENSP00000226284.5:p.Val169Gly
NM_004967.3:c.506T>G NP_004958.2:p.Val169Gly
NM_004967.4:c.506T>G MANE Select NP_004958.2:p.Val169Gly
Search 100 bp 5'
Search 100 bp 3'