Canonical Allele Identifier: CA124686
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234560A>G
GRCh37 chr11:g.5255790A>G
gnomAD v2:
11:5255790 A / G
gnomAD v3:
11:5234560 A / G
gnomAD v4:
chr11-5234560-A-G
Joint Max Group AF 0.00392624 (EAS)
Genomes Max Group AF 0.0019396 (EAS)
Exomes Max Group AF 0.00408423 (EAS)
ClinVar RCV:
RCV000016224
ClinVar Variation:
15072
dbSNP:
34975911
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234560A>G , CM000673.2:g.5234560A>G GRCh38
NC_000011.9:g.5255790A>G , CM000673.1:g.5255790A>G GRCh37
NC_000011.8:g.5212366A>G NCBI36
NG_000007.3:g.63056T>C
NG_063112.2:g.14098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-99T>C ENSP00000494708.1:n.-28-99T>C
ENST00000380299.3:c.-127T>C ENSP00000369654.3:n.-127T>C
ENST00000429817.1:c.-97-30T>C ENSP00000393810.1:n.-97-30T>C
NM_000519.3:c.-127T>C NP_000510.1:n.-127T>C
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