Canonical Allele Identifier: CA871198
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 634810
ClinVar RCV Id: RCV000785597
dbSNP Id: rs754403589
ExAC: 1:55464911 C / G
gnomAD v2: 1-55464911-C-G
gnomAD v3: 1-54999238-C-G
gnomAD v4: 1-54999238-C-G
MyVariant Identifiers: chr1:g.55464911C>G (hg19) chr1:g.54999238C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999238C>G , CM000663.2:g.54999238C>G GRCh38
NC_000001.10:g.55464911C>G , CM000663.1:g.55464911C>G GRCh37
NC_000001.9:g.55237499C>G NCBI36
NG_008965.1:g.5295C>G
NG_008965.2:g.5306C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.52C>G MANE Select ENSP00000498282.1:p.Leu18Val
ENST00000371265.4:c.52C>G ENSP00000360312.4:p.Leu18Val
NM_057176.2:c.52C>G NP_476517.1:p.Leu18Val
NM_057176.3:c.52C>G MANE Select NP_476517.1:p.Leu18Val
Search 100 bp 5'
Search 100 bp 3'