Canonical Allele Identifier: CA12378090
Gene: HBS1L HGNC NCBI
COSMIC:
COSN9968081 (not active)
COSN14782767 (not active)
MyVariant.info:
GRCh38 chr6:g.135097778A>G
GRCh37 chr6:g.135418916A>G
gnomAD v2:
6:135418916 A / G
gnomAD v3:
6:135097778 A / G
gnomAD v4:
chr6-135097778-A-G
Joint Max Group AF 0.25734816 (NFE)
Genomes Max Group AF 0.25734816 (NFE)
dbSNP:
7776054
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135097778A>G , CM000668.2:g.135097778A>G GRCh38
NC_000006.11:g.135418916A>G , CM000668.1:g.135418916A>G GRCh37
NC_000006.10:g.135460609A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529882.5:c.88+5150T>C ENSP00000433030.1:n.88+5150T>C
Search 100 bp 5'
Search 100 bp 3'