Canonical Allele Identifier: CA440295718
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1267205703
gnomAD v2: 4-88732615-G-T
gnomAD v4: 4-87811463-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811463G>T , CM000666.2:g.87811463G>T GRCh38
NC_000004.11:g.88732615G>T , CM000666.1:g.88732615G>T GRCh37
NC_000004.10:g.88951639G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.507G>T MANE Select ENSP00000226284.5:p.Val169=
ENST00000226284.6:c.507G>T ENSP00000226284.5:p.Val169=
NM_004967.3:c.507G>T NP_004958.2:p.Val169=
NM_004967.4:c.507G>T MANE Select NP_004958.2:p.Val169=