Revel Score:
ENST00000373588 (MANE Select)
0.681
ENST00000373587
0.681
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005142 (SAS)
Exomes Max Group AF
0.00004584 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124500196C>A , CM000671.2:g.124500196C>A | GRCh38 |
| NC_000009.11:g.127262475C>A , CM000671.1:g.127262475C>A | GRCh37 |
| NC_000009.10:g.126302296C>A | NCBI36 |
| NG_008176.1:g.12225G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.764G>T MANE Select | ENSP00000362690.4:p.Arg255Leu | |
| ENST00000373587.3:c.116G>T | ENSP00000362689.3:p.Arg39Leu | |
| ENST00000373588.8:c.764G>T | ENSP00000362690.4:p.Arg255Leu | |
| ENST00000620110.4:c.764G>T | ENSP00000483309.1:p.Arg255Leu | |
| NM_004959.4:c.764G>T | NP_004950.2:p.Arg255Leu | |
| XM_005251871.2:c.764G>T | XP_005251928.1:p.Arg255Leu | |
| XM_005251872.3:c.503G>T | XP_005251929.1:p.Arg168Leu | |
| XM_011518455.1:c.764G>T | XP_011516757.1:p.Arg255Leu | |
| XM_011518456.1:c.764G>T | XP_011516758.1:p.Arg255Leu | |
| NM_004959.5:c.764G>T MANE Select | NP_004950.2:p.Arg255Leu |