Canonical Allele Identifier: CA2052324

Gene: NDUFB3

Linked Data

• ClinVar Variation Id: 559384
• ClinVar RCV Id: RCV000677088 ; RCV002544684
• dbSNP Id: rs139936993
• ExAC: 2:201950223 T / C
• gnomAD v2: 2-201950223-T-C
• gnomAD v3: 2-201085500-T-C
• gnomAD v4: 2-201085500-T-C
• MyVariant Identifiers: chr2:g.201950223T>C (hg19) ; chr2:g.201085500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201085500T>C , CM000664.2:g.201085500T>C	GRCh38
NC_000002.11:g.201950223T>C , CM000664.1:g.201950223T>C	GRCh37
NC_000002.10:g.201658468T>C	NCBI36
NG_032156.1:g.18762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.182T>C	ENSP00000401834.2:p.Val61Ala
ENST00000682325.1:c.182T>C	ENSP00000507925.1:p.Val61Ala
ENST00000684175.1:c.182T>C	ENSP00000508132.1:p.Val61Ala
ENST00000684420.1:c.182T>C	ENSP00000508208.1:p.Val61Ala
ENST00000237889.9:c.182T>C MANE Select	ENSP00000237889.4:p.Val61Ala
ENST00000237889.8:c.182T>C	ENSP00000237889.4:p.Val61Ala
ENST00000433898.5:c.182T>C	ENSP00000410600.1:p.Val61Ala
ENST00000450023.5:c.182T>C	ENSP00000401834.1:p.Val61Ala
ENST00000454214.1:c.182T>C	ENSP00000407336.1:p.Val61Ala
NM_001257102.1:c.182T>C	NP_001244031.1:p.Val61Ala
NM_002491.2:c.182T>C	NP_002482.1:p.Val61Ala
XM_011511230.1:c.182T>C	XP_011509532.1:p.Val61Ala
XM_011511230.3:c.182T>C	XP_011509532.1:p.Val61Ala
XM_017004186.2:c.182T>C	XP_016859675.1:p.Val61Ala
NM_002491.3:c.182T>C MANE Select	NP_002482.1:p.Val61Ala
NM_001257102.2:c.182T>C	NP_001244031.1:p.Val61Ala