Canonical Allele Identifier: CA214012
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36370
ClinVar RCV Id: RCV000030039 RCV000965562 RCV001097134 RCV003964818
dbSNP Id: rs35887327
ExAC: 1:119964831 T / C
gnomAD v2: 1-119964831-T-C
gnomAD v3: 1-119422208-T-C
gnomAD v4: 1-119422208-T-C
MyVariant Identifiers: chr1:g.119964831T>C (hg19) chr1:g.119422208T>C (hg38)
PubMed: PMID:10599696
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422208T>C , CM000663.2:g.119422208T>C GRCh38
NC_000001.10:g.119964831T>C , CM000663.1:g.119964831T>C GRCh37
NC_000001.9:g.119766354T>C NCBI36
NG_013349.1:g.12278T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.707T>C MANE Select ENSP00000358424.3:p.Leu236Ser
ENST00000369416.3:c.707T>C ENSP00000358424.3:p.Leu236Ser
ENST00000543831.5:c.707T>C ENSP00000445122.1:p.Leu236Ser
NM_000198.3:c.707T>C NP_000189.1:p.Leu236Ser
NM_001166120.1:c.707T>C NP_001159592.1:p.Leu236Ser
NM_000198.4:c.707T>C MANE Select NP_000189.1:p.Leu236Ser
NM_001166120.2:c.707T>C NP_001159592.1:p.Leu236Ser
Search 100 bp 5'
Search 100 bp 3'