Canonical Allele Identifier: CA3002380
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs762327098
ExAC: 4:88732518 G / A
gnomAD v2: 4-88732518-G-A
gnomAD v4: 4-87811366-G-A
MyVariant Identifiers: chr4:g.88732518G>A (hg19) chr4:g.87811366G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811366G>A , CM000666.2:g.87811366G>A GRCh38
NC_000004.11:g.88732518G>A , CM000666.1:g.88732518G>A GRCh37
NC_000004.10:g.88951542G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.410G>A MANE Select ENSP00000226284.5:p.Gly137Glu
ENST00000226284.6:c.410G>A ENSP00000226284.5:p.Gly137Glu
NM_004967.3:c.410G>A NP_004958.2:p.Gly137Glu
NM_004967.4:c.410G>A MANE Select NP_004958.2:p.Gly137Glu
Search 100 bp 5'
Search 100 bp 3'