Revel Score:
ENST00000526018
0.003
ENST00000263863 (MANE Select)
0.146
ENST00000524600
0.146
ENST00000409696
0.146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85697605A>T , CM000664.2:g.85697605A>T | GRCh38 |
| NC_000002.11:g.85924728A>T , CM000664.1:g.85924728A>T | GRCh37 |
| NC_000002.10:g.85778239A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263863.9:c.355A>T MANE Select | ENSP00000263863.5:p.Thr119Ser | |
| ENST00000263863.8:c.355A>T | ENSP00000263863.4:p.Thr119Ser | |
| ENST00000409696.7:c.310A>T | ENSP00000387116.3:p.Thr104Ser | |
| ENST00000489980.5:n.1799A>T | ||
| ENST00000524600.5:c.436A>T | ENSP00000436423.1:p.Thr146Ser | |
| ENST00000526018.1:c.255A>T | ||
| NM_001302758.1:c.436A>T | NP_001289687.1:p.Thr146Ser | |
| NM_006433.4:c.355A>T | NP_006424.2:p.Thr119Ser | |
| NM_012483.3:c.310A>T | NP_036615.2:p.Thr104Ser | |
| XM_005264084.2:c.337-959A>T | XP_005264141.1:n.337-959A>T | |
| XM_005264085.2:c.256-959A>T | XP_005264142.1:n.256-959A>T | |
| XM_005264087.2:c.211-959A>T | XP_005264144.1:n.211-959A>T | |
| NM_001302758.2:c.436A>T | NP_001289687.1:p.Thr146Ser | |
| NM_006433.5:c.355A>T MANE Select | NP_006424.2:p.Thr119Ser | |
| NM_012483.4:c.310A>T | NP_036615.2:p.Thr104Ser |