Revel Score:
ENST00000341459 (MANE Select)
0.227
ENST00000449382
0.227
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134287A>T , CM000677.2:g.48134287A>T | GRCh38 |
| NC_000015.9:g.48426484A>T , CM000677.1:g.48426484A>T | GRCh37 |
| NC_000015.8:g.46213776A>T | NCBI36 |
| NG_011500.1:g.18316A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341459.8:c.331A>T MANE Select | ENSP00000341550.3:p.Thr111Ser | |
| ENST00000341459.7:c.331A>T | ENSP00000341550.3:p.Thr111Ser | |
| ENST00000449382.2:c.151A>T | ENSP00000389966.2:p.Thr51Ser | |
| ENST00000463289.1:n.91A>T | ||
| NM_205850.2:c.331A>T | NP_995322.1:p.Thr111Ser | |
| XM_011521458.1:c.331A>T | XP_011519760.1:p.Thr111Ser | |
| XM_017022079.1:c.-9A>T | XP_016877568.1:n.-9A>T | |
| XM_017022080.1:c.-9A>T | XP_016877569.1:n.-9A>T | |
| XM_024449901.1:c.-9A>T | XP_024305669.1:n.-9A>T | |
| NM_205850.3:c.331A>T MANE Select | NP_995322.1:p.Thr111Ser |