Canonical Allele Identifier: CA116812
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 4388
ClinVar RCV Id: RCV002281695
dbSNP Id: rs121908144
ExAC: 1:55464894 T / C
gnomAD v2: 1-55464894-T-C
gnomAD v4: 1-54999221-T-C
MyVariant Identifiers: chr1:g.55464894T>C (hg19) chr1:g.54999221T>C (hg38)
PubMed: PMID:19646679
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999221T>C , CM000663.2:g.54999221T>C GRCh38
NC_000001.10:g.55464894T>C , CM000663.1:g.55464894T>C GRCh37
NC_000001.9:g.55237482T>C NCBI36
NG_008965.1:g.5278T>C
NG_008965.2:g.5289T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651561.1:c.35T>C MANE Select ENSP00000498282.1:p.Ile12Thr
ENST00000371265.4:c.35T>C ENSP00000360312.4:p.Ile12Thr
NM_057176.2:c.35T>C NP_476517.1:p.Ile12Thr
NM_057176.3:c.35T>C MANE Select NP_476517.1:p.Ile12Thr
Search 100 bp 5'
Search 100 bp 3'