Canonical Allele Identifier: CA124707
Gene: HBD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15084
ClinVar RCV Id: RCV000016237
dbSNP Id: rs63750345

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233985A>T , CM000673.2:g.5233985A>T GRCh38
NC_000011.9:g.5255215A>T , CM000673.1:g.5255215A>T GRCh37
NC_000011.8:g.5211791A>T NCBI36
NG_000007.3:g.63631T>A
NG_063112.2:g.14673T>A

Transcript Alleles

HGVS Amino-acid change
NM_000519.3:c.315+6T>A VV NP_000510.1:p.=
NM_000519.4:c.315+6T>A VV NP_000510.1:p.=
ENST00000292901.7:c.315+6T>A ENSP00000292901.3:p.=
ENST00000380299.3:c.315+6T>A ENSP00000369654.3:p.=
ENST00000417377.1:c.92+357T>A ENSP00000414741.1:p.=