Revel Score:
ENST00000380317
0.117
ENST00000215115 (MANE Select)
0.117
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004352 (EAS)
Exomes Max Group AF
0.00004913 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30893872T>C , CM000678.2:g.30893872T>C | GRCh38 |
| NC_000016.9:g.30905193T>C , CM000678.1:g.30905193T>C | GRCh37 |
| NC_000016.8:g.30812694T>C | NCBI36 |
| NG_009171.1:g.2266T>C , LRG_408:g.2266T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215115.5:c.73A>G (BCL7C) MANE Select | ENSP00000215115.4:p.Ile25Val | |
| ENST00000215115.4:c.73A>G (BCL7C) | ENSP00000215115.4:p.Ile25Val | |
| ENST00000380317.8:c.73A>G (BCL7C) | ENSP00000369674.4:p.Ile25Val | |
| ENST00000572628.5:c.71A>G (BCL7C) | ||
| ENST00000574418.5:c.73A>G (BCL7C) | ENSP00000461177.1:p.Ile25Val | |
| NM_001286526.1:c.73A>G (BCL7C) | NP_001273455.1:p.Ile25Val | |
| NM_004765.3:c.73A>G (BCL7C) | NP_004756.2:p.Ile25Val | |
| NR_110940.1:n.905-676T>C (MIR762HG) | ||
| NR_110941.1:n.660-676T>C (MIR762HG) | ||
| NR_110942.1:n.117-676T>C (MIR762HG) | ||
| XM_011545980.1:c.73A>G (BCL7C) | XP_011544282.1:p.Ile25Val | |
| XM_011545980.3:c.73A>G (BCL7C) | XP_011544282.1:p.Ile25Val | |
| XM_017023885.2:c.73A>G (BCL7C) | XP_016879374.1:p.Ile25Val | |
| XM_017023886.2:c.73A>G (BCL7C) | XP_016879375.1:p.Ile25Val | |
| XM_017023887.2:c.73A>G (BCL7C) | XP_016879376.1:p.Ile25Val | |
| XM_017023888.2:c.73A>G (BCL7C) | XP_016879377.1:p.Ile25Val | |
| NM_001286526.2:c.73A>G (BCL7C) | NP_001273455.1:p.Ile25Val | |
| NM_004765.4:c.73A>G (BCL7C) MANE Select | NP_004756.2:p.Ile25Val |