Canonical Allele Identifier: CA2559929
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 342736
ClinVar RCV Id: RCV000271274
dbSNP Id: rs140500816
ExAC: 3:120347359 T / C
gnomAD v2: 3-120347359-T-C
gnomAD v3: 3-120628512-T-C
gnomAD v4: 3-120628512-T-C
MyVariant Identifiers: chr3:g.120347359T>C (hg19) chr3:g.120628512T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120628512T>C , CM000665.2:g.120628512T>C GRCh38
NC_000003.11:g.120347359T>C , CM000665.1:g.120347359T>C GRCh37
NC_000003.10:g.121830049T>C NCBI36
NG_011957.1:g.58970A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.1206A>G MANE Select ENSP00000283871.5:p.Ser402=
ENST00000283871.9:c.1206A>G ENSP00000283871.5:p.Ser402=
ENST00000492108.5:c.485A>G ENSP00000419838.1:n.485A>G
NM_000187.3:c.1206A>G NP_000178.2:p.Ser402=
XM_005247412.1:c.981A>G XP_005247469.1:p.Ser327=
XM_005247412.2:c.981A>G XP_005247469.1:p.Ser327=
XM_017006277.2:c.783A>G XP_016861766.1:p.Ser261=
NM_000187.4:c.1206A>G MANE Select NP_000178.2:p.Ser402=
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