Revel Score:
ENST00000262493 (MANE Select)
0.971
ENST00000262494
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56192351T>C , CM000678.2:g.56192351T>C | GRCh38 |
| NC_000016.9:g.56226263T>C , CM000678.1:g.56226263T>C | GRCh37 |
| NC_000016.8:g.54783764T>C | NCBI36 |
| NG_042800.1:g.6013T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.116T>C | ENSP00000262494.7:p.Leu39Pro | |
| ENST00000262493.12:c.116T>C MANE Select | ENSP00000262493.6:p.Leu39Pro | |
| ENST00000262494.12:c.116T>C | ENSP00000262494.7:p.Leu39Pro | |
| ENST00000563661.2:c.116T>C | ENSP00000492694.1:p.Leu39Pro | |
| ENST00000569295.6:c.116T>C | ENSP00000492271.1:p.Leu39Pro | |
| ENST00000570235.2:c.116T>C | ENSP00000477740.2:p.Leu39Pro | |
| ENST00000638705.1:c.116T>C | ENSP00000491223.1:p.Leu39Pro | |
| ENST00000639770.1:c.83T>C | ENSP00000491999.1:p.Leu28Pro | |
| ENST00000639966.1:n.131T>C | ||
| ENST00000640893.1:c.116T>C | ENSP00000492677.1:p.Leu39Pro | |
| ENST00000675160.1:c.116T>C | ENSP00000502403.1:p.Leu39Pro | |
| ENST00000262493.10:c.116T>C | ENSP00000262493.6:p.Leu39Pro | |
| ENST00000262494.11:c.116T>C | ENSP00000262494.7:p.Leu39Pro | |
| ENST00000563661.1:n.113T>C | ||
| ENST00000569295.5:n.338T>C | ||
| ENST00000570235.1:c.116T>C | ENSP00000477740.1:p.Leu39Pro | |
| NM_020988.2:c.116T>C | NP_066268.1:p.Leu39Pro | |
| NM_138736.2:c.116T>C | NP_620073.2:p.Leu39Pro | |
| NM_020988.3:c.116T>C MANE Select | NP_066268.1:p.Leu39Pro | |
| NM_138736.3:c.116T>C | NP_620073.2:p.Leu39Pro |