Canonical Allele Identifier: CA387012930
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs1334574326
gnomAD v2: 12-122284832-A-G
MyVariant Identifiers: chr12:g.122284832A>G (hg19) chr12:g.121846926A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846926A>G , CM000674.2:g.121846926A>G GRCh38
NC_000012.11:g.122284832A>G , CM000674.1:g.122284832A>G GRCh37
NC_000012.10:g.120769215A>G NCBI36
NG_016461.1:g.46686T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.767T>C MANE Select ENSP00000289004.4:p.Val256Ala
ENST00000543163.5:c.650T>C ENSP00000441677.1:p.Val217Ala
NM_001171993.1:c.650T>C NP_001165464.1:p.Val217Ala
NM_002150.2:c.767T>C NP_002141.1:p.Val256Ala
NM_002150.3:c.767T>C MANE Select NP_002141.2:p.Val256Ala
NM_001171993.2:c.650T>C NP_001165464.1:p.Val217Ala
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