Revel Score:
ENST00000205557 (MANE Select)
0.809
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16177490A>G , CM000678.2:g.16177490A>G | GRCh38 |
| NC_000016.9:g.16271347A>G , CM000678.1:g.16271347A>G | GRCh37 |
| NC_000016.8:g.16178848A>G | NCBI36 |
| NG_007558.2:g.50982T>C | |
| NG_007558.3:g.51128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2552T>C | ENSP00000483331.2:p.Leu851Pro | |
| ENST00000205557.12:c.2552T>C MANE Select | ENSP00000205557.7:p.Leu851Pro | |
| ENST00000205557.11:c.2552T>C | ENSP00000205557.7:p.Leu851Pro | |
| ENST00000456970.6:c.2415+1308T>C | ENSP00000405002.2:n.2415+1308T>C | |
| ENST00000576683.1:n.32T>C | ||
| ENST00000622290.4:c.2415+1308T>C | ENSP00000483331.1:n.2415+1308T>C | |
| NM_001171.5:c.2552T>C | NP_001162.4:p.Leu851Pro | |
| XM_011522479.1:c.2519T>C | XP_011520781.1:p.Leu840Pro | |
| XM_011522480.1:c.2210T>C | XP_011520782.1:p.Leu737Pro | |
| XM_011522481.1:c.2210T>C | XP_011520783.1:p.Leu737Pro | |
| XM_011522482.1:c.2552T>C | XP_011520784.1:p.Leu851Pro | |
| XR_932836.1:n.2787T>C | ||
| XR_932837.1:n.2788T>C | ||
| XR_932838.1:n.2788T>C | ||
| NM_001351800.1:c.2210T>C | NP_001338729.1:p.Leu737Pro | |
| NR_147784.1:n.2452+1308T>C | ||
| XM_011522479.2:c.2519T>C | XP_011520781.1:p.Leu840Pro | |
| XM_011522481.3:c.2210T>C | XP_011520783.1:p.Leu737Pro | |
| XM_011522482.3:c.2552T>C | XP_011520784.1:p.Leu851Pro | |
| XM_017023212.1:c.2384T>C | XP_016878701.1:p.Leu795Pro | |
| XM_017023214.1:c.2552T>C | XP_016878703.1:p.Leu851Pro | |
| XM_024450261.1:c.2588T>C | XP_024306029.1:p.Leu863Pro | |
| XR_932836.2:n.2733T>C | ||
| XR_932837.3:n.2733T>C | ||
| XR_932838.3:n.2733T>C | ||
| NM_001171.6:c.2552T>C MANE Select | NP_001162.5:p.Leu851Pro |