Canonical Allele Identifier: CA9383190
Gene: COX6B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 507939
ClinVar RCV Id: RCV001722624
dbSNP Id: rs374405819
ExAC: 19:36149537 C / T
gnomAD v2: 19-36149537-C-T
gnomAD v3: 19-35658635-C-T
gnomAD v4: 19-35658635-C-T
MyVariant Identifiers: chr19:g.36149537C>T (hg19) chr19:g.35658635C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35658635C>T , CM000681.2:g.35658635C>T GRCh38
NC_000019.9:g.36149537C>T , CM000681.1:g.36149537C>T GRCh37
NC_000019.8:g.40841377C>T NCBI36
NG_012193.1:g.15383C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592141.6:c.249C>T ENSP00000466818.2:p.Pro83=
ENST00000649813.2:c.249C>T MANE Select ENSP00000497926.1:p.Pro83=
ENST00000246554.7:c.249C>T ENSP00000246554.2:p.Pro83=
ENST00000392201.1:c.249C>T ENSP00000376037.2:p.Pro83=
ENST00000590618.1:c.147C>T
ENST00000592141.5:c.249C>T ENSP00000466818.2:p.Pro83=
NM_001863.4:c.249C>T NP_001854.1:p.Pro83=
NM_001863.5:c.249C>T MANE Select NP_001854.1:p.Pro83=
Search 100 bp 5'
Search 100 bp 3'