Revel Score:
ENST00000366953 (MANE Select)
0.099
ENST00000366952
0.099
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160249250A>T , CM000668.2:g.160249250A>T | GRCh38 |
| NC_000006.11:g.160670282A>T , CM000668.1:g.160670282A>T | GRCh37 |
| NC_000006.10:g.160590272A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.808T>A MANE Select | ENSP00000355920.3:p.Ser270Thr | |
| ENST00000366952.1:c.745T>A | ENSP00000355919.1:p.Ser249Thr | |
| ENST00000366953.7:c.808T>A | ENSP00000355920.3:p.Ser270Thr | |
| ENST00000491092.1:n.705T>A | ||
| NM_003058.3:c.808T>A | NP_003049.2:p.Ser270Thr | |
| NM_003058.4:c.808T>A MANE Select | NP_003049.2:p.Ser270Thr |