Canonical Allele Identifier: CA312492
Gene: ETFB HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51353229G>A
GRCh37 chr19:g.51856483G>A
Revel Score:
ENST00000309244 (MANE Select) 0.129
ENST00000354232 0.129
gnomAD v2:
19:51856483 G / A
gnomAD v3:
19:51353229 G / A
gnomAD v4:
chr19-51353229-G-A
Joint Max Group AF 0.00024806 (AMR)
Genomes Max Group AF 0.00035375 (AMR)
Exomes Max Group AF 0.00023405 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51353229G>A , CM000681.2:g.51353229G>A GRCh38
NC_000019.9:g.51856483G>A , CM000681.1:g.51856483G>A GRCh37
NC_000019.8:g.56548295G>A NCBI36
NG_007115.1:g.18190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309244.9:c.278C>T MANE Select ENSP00000311930.3:p.Pro93Leu
ENST00000309244.8:c.278C>T ENSP00000311930.3:p.Pro93Leu
ENST00000354232.8:c.551C>T ENSP00000346173.3:p.Pro184Leu
ENST00000593992.1:n.301C>T
ENST00000596253.1:c.216+921C>T ENSP00000469628.1:n.216+921C>T
ENST00000600067.1:c.*204C>T ENSP00000469452.1:n.*204C>T
NM_001014763.1:c.551C>T NP_001014763.1:p.Pro184Leu
NM_001985.2:c.278C>T NP_001976.1:p.Pro93Leu
XM_024451418.1:c.167C>T XP_024307186.1:p.Pro56Leu
NM_001985.3:c.278C>T MANE Select NP_001976.1:p.Pro93Leu
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