Revel Score:
ENST00000263326 (MANE Select)
0.034
ENST00000353225
0.034
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112913833A>T , CM000664.2:g.112913833A>T | GRCh38 |
| NC_000002.11:g.113671410A>T , CM000664.1:g.113671410A>T | GRCh37 |
| NC_000002.10:g.113387881A>T | NCBI36 |
| NG_029219.1:g.5863A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263326.8:c.124A>T MANE Select | ENSP00000263326.3:p.Thr42Ser | |
| ENST00000263326.7:c.124A>T | ENSP00000263326.3:p.Thr42Ser | |
| ENST00000349806.7:c.82+739A>T | ENSP00000263328.3:n.82+739A>T | |
| ENST00000352179.7:c.82+739A>T | ENSP00000263327.3:n.82+739A>T | |
| ENST00000353225.7:c.124A>T | ENSP00000309208.3:p.Thr42Ser | |
| NM_014439.3:c.124A>T | NP_055254.2:p.Thr42Ser | |
| NM_173202.1:c.82+739A>T | NP_775294.1:n.82+739A>T | |
| NM_173203.1:c.82+739A>T | NP_775295.1:n.82+739A>T | |
| NM_173204.1:c.124A>T | NP_775296.1:p.Thr42Ser | |
| XM_011510963.1:c.124A>T | XP_011509265.1:p.Thr42Ser | |
| XM_011510964.1:c.124A>T | XP_011509266.1:p.Thr42Ser | |
| XM_011510963.3:c.124A>T | XP_011509265.1:p.Thr42Ser | |
| XM_011510964.3:c.124A>T | XP_011509266.1:p.Thr42Ser | |
| NM_014439.4:c.124A>T MANE Select | NP_055254.2:p.Thr42Ser | |
| NM_173202.2:c.82+739A>T | NP_775294.1:n.82+739A>T | |
| NM_173203.2:c.82+739A>T | NP_775295.1:n.82+739A>T | |
| NM_173204.2:c.124A>T | NP_775296.1:p.Thr42Ser |