Revel Score:
ENST00000263791 (MANE Select)
0.702
ENST00000382727
0.702
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40003301C>T , CM000677.2:g.40003301C>T | GRCh38 |
| NC_000015.9:g.40295502C>T , CM000677.1:g.40295502C>T | GRCh37 |
| NC_000015.8:g.38082794C>T | NCBI36 |
| NG_034053.1:g.74178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3344C>T MANE Select | ENSP00000263791.5:p.Pro1115Leu | |
| ENST00000263791.9:c.3344C>T | ENSP00000263791.5:p.Pro1115Leu | |
| ENST00000558557.1:n.507C>T | ||
| ENST00000558629.5:n.2261C>T | ||
| ENST00000559311.5:n.305C>T | ||
| ENST00000560855.5:c.2676C>T | ||
| NM_001013703.3:c.3344C>T | NP_001013725.2:p.Pro1115Leu | |
| XM_005254392.1:c.3344C>T | XP_005254449.1:p.Pro1115Leu | |
| XM_011521599.1:c.3344C>T | XP_011519901.1:p.Pro1115Leu | |
| XM_011521600.1:c.3344C>T | XP_011519902.1:p.Pro1115Leu | |
| XM_005254392.3:c.3344C>T | XP_005254449.1:p.Pro1115Leu | |
| XM_011521599.2:c.3344C>T | XP_011519901.1:p.Pro1115Leu | |
| XM_011521600.3:c.3344C>T | XP_011519902.1:p.Pro1115Leu | |
| XM_017022219.2:c.3344C>T | XP_016877708.1:p.Pro1115Leu | |
| NM_001013703.4:c.3344C>T MANE Select | NP_001013725.2:p.Pro1115Leu |