Revel Score:
ENST00000261584 (MANE Select)
0.023
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635810T>A , CM000678.2:g.23635810T>A | GRCh38 |
| NC_000016.9:g.23647131T>A , CM000678.1:g.23647131T>A | GRCh37 |
| NC_000016.8:g.23554632T>A | NCBI36 |
| NG_007406.1:g.10548A>T , LRG_308:g.10548A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.742A>T | ENSP00000460666.3:p.Thr248Ser | |
| ENST00000565038.2:c.211+2040A>T | ENSP00000459882.2:n.211+2040A>T | |
| ENST00000566069.6:c.736A>T | ENSP00000459237.2:p.Thr246Ser | |
| ENST00000697377.2:c.742A>T | ENSP00000513286.2:p.Thr248Ser | |
| ENST00000697379.2:c.742A>T | ENSP00000513287.2:p.Thr248Ser | |
| ENST00000561514.2:c.-150A>T | ENSP00000460666.2:n.-150A>T | |
| ENST00000697374.1:c.-150A>T | ENSP00000513284.1:n.-150A>T | |
| ENST00000697375.1:n.2083A>T | ||
| ENST00000697376.1:c.-150A>T | ENSP00000513285.1:n.-150A>T | |
| ENST00000697377.1:c.-150A>T | ENSP00000513286.1:n.-150A>T | |
| ENST00000697378.1:n.1256A>T | ||
| ENST00000697379.1:c.-150A>T | ENSP00000513287.1:n.-150A>T | |
| ENST00000697382.1:c.-150A>T | ENSP00000513288.1:n.-150A>T | |
| ENST00000697383.1:c.48+5300A>T | ENSP00000513289.1:n.48+5300A>T | |
| ENST00000697384.1:n.890A>T | ||
| ENST00000261584.9:c.736A>T MANE Select | ENSP00000261584.4:p.Thr246Ser | |
| ENST00000261584.8:c.736A>T | ENSP00000261584.4:p.Thr246Ser | |
| ENST00000565038.1:c.86+2040A>T | ||
| ENST00000568219.5:c.-150A>T | ENSP00000454703.2:n.-150A>T | |
| NM_024675.3:c.736A>T , LRG_308t1:c.736A>T | NP_078951.2:p.Thr246Ser | |
| XM_011545946.1:c.742A>T | XP_011544248.1:p.Thr248Ser | |
| XM_011545947.1:c.742A>T | XP_011544249.1:p.Thr248Ser | |
| XM_011545948.1:c.-150A>T | XP_011544250.1:n.-150A>T | |
| XR_950851.1:n.1532A>T | ||
| XM_011545946.2:c.742A>T | XP_011544248.1:p.Thr248Ser | |
| XM_011545947.2:c.742A>T | XP_011544249.1:p.Thr248Ser | |
| XM_011545948.2:c.-150A>T | XP_011544250.1:n.-150A>T | |
| XM_017023671.1:c.742A>T | XP_016879160.1:p.Thr248Ser | |
| XM_017023672.2:c.736A>T | XP_016879161.1:p.Thr246Ser | |
| XM_017023673.2:c.736A>T | XP_016879162.1:p.Thr246Ser | |
| NM_024675.4:c.736A>T MANE Select | NP_078951.2:p.Thr246Ser |