Canonical Allele Identifier: CA6839521
Gene: HPD HGNC NCBI

Linked Data

ClinVar Variation Id: 2926702
ClinVar RCV Id: RCV003788940
dbSNP Id: rs774349655
ExAC: 12:122284757 G / C
gnomAD v2: 12-122284757-G-C
gnomAD v3: 12-121846851-G-C
gnomAD v4: 12-121846851-G-C
MyVariant Identifiers: chr12:g.122284757G>C (hg19) chr12:g.121846851G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846851G>C , CM000674.2:g.121846851G>C GRCh38
NC_000012.11:g.122284757G>C , CM000674.1:g.122284757G>C GRCh37
NC_000012.10:g.120769140G>C NCBI36
NG_016461.1:g.46761C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.831+11C>G MANE Select ENSP00000289004.4:n.831+11C>G
ENST00000543163.5:c.714+11C>G ENSP00000441677.1:n.714+11C>G
NM_001171993.1:c.714+11C>G NP_001165464.1:n.714+11C>G
NM_002150.2:c.831+11C>G NP_002141.1:n.831+11C>G
NM_002150.3:c.831+11C>G MANE Select NP_002141.2:n.831+11C>G
NM_001171993.2:c.714+11C>G NP_001165464.1:n.714+11C>G
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