Revel Score:
ENST00000392968
0.820
ENST00000262186 (MANE Select)
0.820
ENST00000430723
0.820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957418G>A , CM000669.2:g.150957418G>A | GRCh38 |
| NC_000007.13:g.150654506G>A , CM000669.1:g.150654506G>A | GRCh37 |
| NC_000007.12:g.150285439G>A | NCBI36 |
| NG_008916.1:g.25509C>T , LRG_288:g.25509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1834C>T | ||
| ENST00000262186.10:c.1001C>T MANE Select | ENSP00000262186.5:p.Pro334Leu | |
| ENST00000262186.9:c.1001C>T | ENSP00000262186.5:p.Pro334Leu | |
| ENST00000430723.4:c.653C>T | ENSP00000387657.4:p.Pro218Leu | |
| ENST00000532957.5:n.1224C>T | ||
| NM_000238.3:c.1001C>T , LRG_288t1:c.1001C>T | NP_000229.1:p.Pro334Leu | |
| NM_172056.2:c.1001C>T , LRG_288t2:c.1001C>T | NP_742053.1:p.Pro334Leu | |
| XM_011516185.1:c.701C>T | XP_011514487.1:p.Pro234Leu | |
| XM_011516186.1:c.1001C>T | XP_011514488.1:p.Pro334Leu | |
| XM_011516185.2:c.701C>T | XP_011514487.1:p.Pro234Leu | |
| XM_011516186.3:c.1001C>T | XP_011514488.1:p.Pro334Leu | |
| XM_017012195.1:c.851C>T | XP_016867684.1:p.Pro284Leu | |
| XM_017012196.1:c.824C>T | XP_016867685.1:p.Pro275Leu | |
| NM_000238.4:c.1001C>T MANE Select | NP_000229.1:p.Pro334Leu |