Revel Score:
ENST00000377833 (MANE Select)
0.196
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16877053T>G , CM000672.2:g.16877053T>G | GRCh38 |
| NC_000010.10:g.16919052T>G , CM000672.1:g.16919052T>G | GRCh37 |
| NC_000010.9:g.16959058T>G | NCBI36 |
| NG_008967.1:g.257765A>C , LRG_540:g.257765A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.8950A>C MANE Select | ENSP00000367064.4:p.Ile2984Leu | |
| ENST00000377833.8:c.8950A>C | ENSP00000367064.4:p.Ile2984Leu | |
| NM_001081.3:c.8950A>C , LRG_540t1:c.8950A>C | NP_001072.2:p.Ile2984Leu | |
| XM_011519709.1:c.4936A>C | XP_011518011.1:p.Ile1646Leu | |
| XM_011519710.1:c.4912A>C | XP_011518012.1:p.Ile1638Leu | |
| XM_011519711.1:c.4792A>C | XP_011518013.1:p.Ile1598Leu | |
| XM_011519709.2:c.4936A>C | XP_011518011.1:p.Ile1646Leu | |
| XM_011519710.2:c.4912A>C | XP_011518012.1:p.Ile1638Leu | |
| XM_011519711.3:c.4792A>C | XP_011518013.1:p.Ile1598Leu | |
| NM_001081.4:c.8950A>C MANE Select | NP_001072.2:p.Ile2984Leu |