Revel Score:
ENST00000446804
0.125
ENST00000311907 (MANE Select)
0.295
ENST00000530231
0.295
ENST00000442468
0.295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725903T>C , CM000673.2:g.46725903T>C | GRCh38 |
| NC_000011.9:g.46747453T>C , CM000673.1:g.46747453T>C | GRCh37 |
| NC_000011.8:g.46704029T>C | NCBI36 |
| NG_008953.1:g.11711T>C , LRG_551:g.11711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.604T>C MANE Select | ENSP00000308541.5:p.Ser202Pro | |
| ENST00000311907.9:c.604T>C | ENSP00000308541.5:p.Ser202Pro | |
| ENST00000442468.1:c.574T>C | ENSP00000387413.1:p.Ser192Pro | |
| ENST00000490274.1:n.384T>C | ||
| ENST00000530231.5:c.604T>C | ENSP00000433907.1:p.Ser202Pro | |
| NM_000506.3:c.604T>C | NP_000497.1:p.Ser202Pro | |
| NM_000506.4:c.604T>C , LRG_551t1:c.604T>C | NP_000497.1:p.Ser202Pro | |
| NM_001311257.1:c.556T>C | NP_001298186.1:p.Ser186Pro | |
| XR_428840.2:n.648T>C | ||
| XR_428840.4:n.639T>C | ||
| NM_000506.5:c.604T>C MANE Select | NP_000497.1:p.Ser202Pro | |
| NM_001311257.2:c.556T>C | NP_001298186.1:p.Ser186Pro |