Canonical Allele Identifier: CA6839537
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs754836496
ExAC: 12:122284833 C / T
gnomAD v2: 12-122284833-C-T
gnomAD v4: 12-121846927-C-T
MyVariant Identifiers: chr12:g.122284833C>T (hg19) chr12:g.121846927C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846927C>T , CM000674.2:g.121846927C>T GRCh38
NC_000012.11:g.122284833C>T , CM000674.1:g.122284833C>T GRCh37
NC_000012.10:g.120769216C>T NCBI36
NG_016461.1:g.46685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.766G>A MANE Select ENSP00000289004.4:p.Val256Met
ENST00000543163.5:c.649G>A ENSP00000441677.1:p.Val217Met
NM_001171993.1:c.649G>A NP_001165464.1:p.Val217Met
NM_002150.2:c.766G>A NP_002141.1:p.Val256Met
NM_002150.3:c.766G>A MANE Select NP_002141.2:p.Val256Met
NM_001171993.2:c.649G>A NP_001165464.1:p.Val217Met
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