Revel Score:
ENST00000367590 (MANE Select)
0.746
ENST00000367589
0.746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180806529T>C , CM000663.2:g.180806529T>C | GRCh38 |
| NC_000001.10:g.180775665T>C , CM000663.1:g.180775665T>C | GRCh37 |
| NC_000001.9:g.179042288T>C | NCBI36 |
| NG_050964.1:g.179520T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.653T>C MANE Select | ENSP00000356562.4:p.Leu218Ser | |
| ENST00000367589.3:c.653T>C | ENSP00000356561.3:p.Leu218Ser | |
| ENST00000367590.8:c.653T>C | ENSP00000356562.4:p.Leu218Ser | |
| NM_001135669.1:c.653T>C | NP_001129141.1:p.Leu218Ser | |
| NM_004736.3:c.653T>C | NP_004727.2:p.Leu218Ser | |
| NM_001328662.1:c.653T>C | NP_001315591.1:p.Leu218Ser | |
| NR_137330.1:n.845T>C | ||
| NM_001135669.2:c.653T>C | NP_001129141.1:p.Leu218Ser | |
| NM_001328662.2:c.653T>C | NP_001315591.1:p.Leu218Ser | |
| NM_004736.4:c.653T>C MANE Select | NP_004727.2:p.Leu218Ser | |
| NR_137330.2:n.833T>C |