Revel Score:
ENST00000316623 (MANE Select)
0.368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425840T>G , CM000677.2:g.48425840T>G | GRCh38 |
| NC_000015.9:g.48718037T>G , CM000677.1:g.48718037T>G | GRCh37 |
| NC_000015.8:g.46505329T>G | NCBI36 |
| NG_008805.2:g.224949A>C , LRG_778:g.224949A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*37A>C | ENSP00000453958.2:n.*37A>C | |
| ENST00000674301.2:c.*742A>C | ENSP00000501333.2:n.*742A>C | |
| ENST00000682170.1:n.1410A>C | ||
| ENST00000682767.1:n.526A>C | ||
| ENST00000316623.10:c.7229A>C MANE Select | ENSP00000325527.5:p.His2410Pro | |
| ENST00000674301.1:c.2395A>C | ENSP00000501333.1:n.2395A>C | |
| ENST00000316623.9:c.7229A>C | ENSP00000325527.5:p.His2410Pro | |
| ENST00000559133.5:c.2598A>C | ||
| NM_000138.4:c.7229A>C , LRG_778t1:c.7229A>C | NP_000129.3:p.His2410Pro | |
| NM_000138.5:c.7229A>C MANE Select | NP_000129.3:p.His2410Pro |