Revel Score:
ENST00000316623 (MANE Select)
0.808
ENST00000389087
0.808
ENST00000544030
0.808
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432908G>A , CM000677.2:g.48432908G>A | GRCh38 |
| NC_000015.9:g.48725105G>A , CM000677.1:g.48725105G>A | GRCh37 |
| NC_000015.8:g.46512397G>A | NCBI36 |
| NG_008805.2:g.217881C>T , LRG_778:g.217881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6697C>T | ENSP00000453958.2:p.Pro2233Ser | |
| ENST00000674301.2:c.*148C>T | ENSP00000501333.2:n.*148C>T | |
| ENST00000682170.1:n.306C>T | ||
| ENST00000316623.10:c.6697C>T MANE Select | ENSP00000325527.5:p.Pro2233Ser | |
| ENST00000674301.1:c.1801C>T | ENSP00000501333.1:n.1801C>T | |
| ENST00000316623.9:c.6697C>T | ENSP00000325527.5:p.Pro2233Ser | |
| ENST00000537463.6:c.*2460C>T | ENSP00000440294.2:n.*2460C>T | |
| ENST00000559133.5:c.2004C>T | ||
| NM_000138.4:c.6697C>T , LRG_778t1:c.6697C>T | NP_000129.3:p.Pro2233Ser | |
| NM_000138.5:c.6697C>T MANE Select | NP_000129.3:p.Pro2233Ser |