Canonical Allele Identifier: CA15451814
Gene: HBS1L HGNC NCBI
COSMIC:
COSN14905543 (not active)
MyVariant.info:
GRCh38 chr6:g.135102071T>C
GRCh37 chr6:g.135423209T>C
gnomAD v2:
6:135423209 T / C
gnomAD v3:
6:135102071 T / C
gnomAD v4:
chr6-135102071-T-C
Joint Max Group AF 0.47537969 (AFR)
Genomes Max Group AF 0.47537969 (AFR)
dbSNP:
9373124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135102071T>C , CM000668.2:g.135102071T>C GRCh38
NC_000006.11:g.135423209T>C , CM000668.1:g.135423209T>C GRCh37
NC_000006.10:g.135464902T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529882.5:c.88+857A>G ENSP00000433030.1:n.88+857A>G
Search 100 bp 5'
Search 100 bp 3'