Revel Score:
ENST00000336233 (MANE Select)
0.142
ENST00000371829
0.142
ENST00000541980
0.142
ENST00000456827
0.142
ENST00000542307
0.142
ENST00000428800
0.142
ENST00000282673
0.142
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89247603T>A , CM000672.2:g.89247603T>A | GRCh38 |
| NC_000010.10:g.91007360T>A , CM000672.1:g.91007360T>A | GRCh37 |
| NC_000010.9:g.90997340T>A | NCBI36 |
| NG_008194.1:g.9301A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.46A>T MANE Select | ENSP00000337354.5:p.Thr16Ser | |
| ENST00000282673.5:c.46A>T | ENSP00000282673.4:p.Thr16Ser | |
| ENST00000336233.9:c.46A>T | ENSP00000337354.5:p.Thr16Ser | |
| ENST00000371837.5:c.62-19205A>T | ENSP00000360903.1:n.62-19205A>T | |
| ENST00000428800.5:c.46A>T | ENSP00000388415.1:p.Thr16Ser | |
| ENST00000456827.5:c.-120+4134A>T | ENSP00000413019.2:n.-120+4134A>T | |
| NM_000235.3:c.46A>T | NP_000226.2:p.Thr16Ser | |
| NM_001127605.2:c.46A>T | NP_001121077.1:p.Thr16Ser | |
| NM_001288979.1:c.-120+4134A>T | NP_001275908.1:n.-120+4134A>T | |
| XM_024448023.1:c.46A>T | XP_024303791.1:p.Thr16Ser | |
| NM_000235.4:c.46A>T MANE Select | NP_000226.2:p.Thr16Ser | |
| NM_001127605.3:c.46A>T | NP_001121077.1:p.Thr16Ser | |
| NM_001288979.2:c.-120+4134A>T | NP_001275908.1:n.-120+4134A>T |