Revel Score:
ENST00000264972 (MANE Select)
0.306
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000557 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97724275C>T , CM000664.2:g.97724275C>T | GRCh38 |
| NC_000002.11:g.98340738C>T , CM000664.1:g.98340738C>T | GRCh37 |
| NC_000002.10:g.97707170C>T | NCBI36 |
| NG_007727.1:g.15708C>T , LRG_126:g.15708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.239C>T | ENSP00000513759.1:p.Pro80Leu | |
| ENST00000698509.1:n.379C>T | ||
| ENST00000264972.10:c.239C>T MANE Select | ENSP00000264972.5:p.Pro80Leu | |
| ENST00000264972.9:c.239C>T | ENSP00000264972.5:p.Pro80Leu | |
| ENST00000483781.5:n.432C>T | ||
| NM_001079.3:c.239C>T , LRG_126t1:c.239C>T | NP_001070.2:p.Pro80Leu | |
| XM_005264015.3:c.239C>T | XP_005264072.1:p.Pro80Leu | |
| XM_006712728.2:c.239C>T | XP_006712791.1:p.Pro80Leu | |
| XM_011511783.1:c.239C>T | XP_011510085.1:p.Pro80Leu | |
| XR_923018.1:n.441C>T | ||
| XR_923019.1:n.441C>T | ||
| XR_923020.1:n.441C>T | ||
| XM_017004867.1:c.608C>T | XP_016860356.1:p.Pro203Leu | |
| XM_017004868.1:c.608C>T | XP_016860357.1:p.Pro203Leu | |
| XM_017004869.1:c.608C>T | XP_016860358.1:p.Pro203Leu | |
| XM_017004870.1:c.608C>T | XP_016860359.1:p.Pro203Leu | |
| XR_001738925.1:n.1847C>T | ||
| XR_001738926.1:n.1847C>T | ||
| XR_001738927.1:n.1847C>T | ||
| NM_001079.4:c.239C>T MANE Select | NP_001070.2:p.Pro80Leu | |
| NM_001378594.1:c.239C>T | NP_001365523.1:p.Pro80Leu |