Canonical Allele Identifier: CA15228614
Gene: BSN HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49667554T>C
GRCh37 chr3:g.49704987T>C
gnomAD v2:
3:49704987 T / C
gnomAD v3:
3:49667554 T / C
gnomAD v4:
chr3-49667554-T-C
Joint Max Group AF 0.92297862 (EAS)
Genomes Max Group AF 0.92314505 (EAS)
Exomes Max Group AF 0.29085731 (NFE)
dbSNP:
2131109
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49667554T>C , CM000665.2:g.49667554T>C GRCh38
NC_000003.11:g.49704987T>C , CM000665.1:g.49704987T>C GRCh37
NC_000003.10:g.49679991T>C NCBI36
NG_015892.1:g.118066T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296452.5:c.*105-36T>C MANE Select ENSP00000296452.4:n.*105-36T>C
ENST00000296452.4:c.*105-36T>C ENSP00000296452.4:n.*105-36T>C
NM_003458.3:c.*105-36T>C NP_003449.2:n.*105-36T>C
NM_003458.4:c.*105-36T>C MANE Select NP_003449.2:n.*105-36T>C
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