Canonical Allele Identifier: CA124633
Gene: HBD HGNC NCBI

Linked Data

ClinVar Variation Id: 15042
ClinVar RCV Id: RCV000016186 RCV000016187
dbSNP Id: rs34012192
ExAC: 11:5255615 C / G
gnomAD v2: 11-5255615-C-G
gnomAD v3: 11-5234385-C-G
gnomAD v4: 11-5234385-C-G
MyVariant Identifiers: chr11:g.5255615C>G (hg19) chr11:g.5234385C>G (hg38)
PubMed: PMID:1802885 PMID:4077557 PMID:5956309 PMID:6058951 PMID:6171371 PMID:7852086 PMID:12779272 PMID:13715995
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234385C>G , CM000673.2:g.5234385C>G GRCh38
NC_000011.9:g.5255615C>G , CM000673.1:g.5255615C>G GRCh37
NC_000011.8:g.5212191C>G NCBI36
NG_000007.3:g.63231G>C
NG_063112.2:g.14273G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.49G>C ENSP00000494708.1:p.Gly17Arg
ENST00000650601.1:c.49G>C MANE Select ENSP00000497529.1:p.Gly17Arg
ENST00000292901.7:c.49G>C ENSP00000292901.3:p.Gly17Arg
ENST00000380299.3:c.49G>C ENSP00000369654.3:p.Gly17Arg
ENST00000417377.1:c.49G>C ENSP00000414741.1:p.Gly17Arg
ENST00000429817.1:c.49G>C ENSP00000393810.1:p.Gly17Arg
NM_000519.3:c.49G>C NP_000510.1:p.Gly17Arg
NM_000519.4:c.49G>C MANE Select NP_000510.1:p.Gly17Arg
Search 100 bp 5'
Search 100 bp 3'