Revel Score:
ENST00000368636 (MANE Select)
0.059
ENST00000540159
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.131970954A>G , CM000672.2:g.131970954A>G | GRCh38 |
| NC_000010.10:g.133784458A>G , CM000672.1:g.133784458A>G | GRCh37 |
| NC_000010.9:g.133634448A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368636.9:c.299T>C (BNIP3) MANE Select | ENSP00000357625.6:p.Ile100Thr | |
| ENST00000540159.4:c.299T>C (BNIP3) | ENSP00000446145.3:p.Ile100Thr | |
| ENST00000633835.2:c.299T>C (BNIP3) | ENSP00000487769.2:p.Ile100Thr | |
| ENST00000368636.8:c.494T>C (BNIP3) | ENSP00000357625.5:p.Ile165Thr | |
| ENST00000540159.3:c.416T>C (BNIP3) | ENSP00000446145.2:p.Ile139Thr | |
| ENST00000633835.1:c.460T>C (BNIP3) | ||
| NM_004052.3:c.494T>C (BNIP3) | NP_004043.3:p.Ile165Thr | |
| XM_006717914.3:c.*1300A>G (PPP2R2D) | XP_006717977.1:n.*1300A>G | |
| NM_004052.4:c.299T>C (BNIP3) MANE Select | NP_004043.4:p.Ile100Thr |