Canonical Allele Identifier: CA482193305
Gene: HPD HGNC NCBI

Linked Data

ClinVar Variation Id: 2927016
ClinVar RCV Id: RCV003781206
dbSNP Id: rs1374155721
gnomAD v2: 12-122284819-C-T
gnomAD v3: 12-121846913-C-T
gnomAD v4: 12-121846913-C-T
MyVariant Identifiers: chr12:g.122284819C>T (hg19) chr12:g.121846913C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846913C>T , CM000674.2:g.121846913C>T GRCh38
NC_000012.11:g.122284819C>T , CM000674.1:g.122284819C>T GRCh37
NC_000012.10:g.120769202C>T NCBI36
NG_016461.1:g.46699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.780G>A MANE Select ENSP00000289004.4:p.Gly260=
ENST00000543163.5:c.663G>A ENSP00000441677.1:p.Gly221=
NM_001171993.1:c.663G>A NP_001165464.1:p.Gly221=
NM_002150.2:c.780G>A NP_002141.1:p.Gly260=
NM_002150.3:c.780G>A MANE Select NP_002141.2:p.Gly260=
NM_001171993.2:c.663G>A NP_001165464.1:p.Gly221=
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