Canonical Allele Identifier: CA7040603
Gene: BIVM HGNC NCBI
BIVM-ERCC5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.102807503C>T
GRCh37 chr13:g.103459853C>T
Revel Score:
ENST00000257336 (MANE Select) 0.069
ENST00000419638 0.069
ENST00000418659 0.069
gnomAD v2:
13:103459853 C / T
gnomAD v3:
13:102807503 C / T
gnomAD v4:
chr13-102807503-C-T
Joint Max Group AF 0.00004283 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV004308568
ClinVar Variation:
2535027
dbSNP:
541055812
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102807503C>T , CM000675.2:g.102807503C>T GRCh38
NC_000013.10:g.103459853C>T , CM000675.1:g.103459853C>T GRCh37
NC_000013.9:g.102257854C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257336.6:c.236C>T (BIVM) MANE Select ENSP00000257336.1:p.Ala79Val
ENST00000448849.3:c.-210+7982C>T (BIVM) ENSP00000412794.2:n.-210+7982C>T
ENST00000474443.2:n.522C>T (BIVM)
ENST00000639132.1:c.-452C>T (BIVM-ERCC5) ENSP00000492684.1:n.-452C>T
ENST00000639435.1:c.236C>T (BIVM-ERCC5) ENSP00000491742.1:p.Ala79Val
ENST00000651008.1:c.-452C>T (BIVM) ENSP00000498638.1:n.-452C>T
ENST00000651048.1:c.236C>T (BIVM) ENSP00000498297.1:p.Ala79Val
ENST00000651228.1:c.329C>T (BIVM) ENSP00000498493.1:p.Ala110Val
ENST00000651808.1:c.236C>T (BIVM) ENSP00000498252.1:p.Ala79Val
ENST00000651855.1:c.*326C>T (BIVM) ENSP00000498508.1:n.*326C>T
ENST00000651949.1:c.-452C>T (BIVM) ENSP00000498968.1:n.-452C>T
ENST00000652006.1:c.236C>T (BIVM) ENSP00000498585.1:p.Ala79Val
ENST00000652084.1:c.236C>T (BIVM) ENSP00000498544.1:p.Ala79Val
ENST00000652643.1:n.408C>T (BIVM)
ENST00000652766.1:c.236C>T (BIVM) ENSP00000499207.1:p.Ala79Val
ENST00000257336.5:c.236C>T (BIVM) ENSP00000257336.1:p.Ala79Val
ENST00000448849.2:c.-210+7982C>T (BIVM) ENSP00000412794.2:n.-210+7982C>T
ENST00000602836.1:c.150C>T (BIVM-ERCC5)
NM_001159596.1:c.-210+7982C>T (BIVM) NP_001153068.1:n.-210+7982C>T
NM_001204425.1:c.236C>T (BIVM-ERCC5) NP_001191354.1:p.Ala79Val
NM_017693.3:c.236C>T (BIVM) NP_060163.2:p.Ala79Val
NM_017693.4:c.236C>T (BIVM) MANE Select NP_060163.2:p.Ala79Val
NM_001159596.2:c.-210+7982C>T (BIVM) NP_001153068.1:n.-210+7982C>T
NM_001204425.2:c.236C>T (BIVM-ERCC5) NP_001191354.2:p.Ala79Val
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