Revel Score:
ENST00000428225
0.048
ENST00000519937 (MANE Select)
0.209
ENST00000393822
0.209
ENST00000342375
0.209
ENST00000409383
0.209
ENST00000441838
0.209
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85666618G>C , CM000664.2:g.85666618G>C | GRCh38 |
| NC_000002.11:g.85893741G>C , CM000664.1:g.85893741G>C | GRCh37 |
| NC_000002.10:g.85747252G>C | NCBI36 |
| NG_016967.1:g.7124C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.392C>G | ENSP00000386346.2:p.Thr131Ser | |
| ENST00000519937.7:c.392C>G MANE Select | ENSP00000428719.2:p.Thr131Ser | |
| ENST00000393822.7:c.392C>G | ENSP00000377409.4:p.Thr131Ser | |
| ENST00000409383.5:c.428C>G | ENSP00000386346.1:p.Thr143Ser | |
| ENST00000428225.5:c.381C>G | ||
| ENST00000473692.1:n.398C>G | ||
| ENST00000519937.6:c.392C>G | ENSP00000428719.2:p.Thr131Ser | |
| NM_000542.3:c.428C>G | NP_000533.3:p.Thr143Ser | |
| NM_198843.2:c.428C>G | NP_942140.2:p.Thr143Ser | |
| XM_005264487.2:c.428C>G | XP_005264544.1:p.Thr143Ser | |
| XM_005264488.2:c.392C>G | XP_005264545.2:p.Thr131Ser | |
| XM_005264490.3:c.392C>G | XP_005264547.2:p.Thr131Ser | |
| XM_005264488.4:c.392C>G | XP_005264545.2:p.Thr131Ser | |
| XM_005264490.4:c.392C>G | XP_005264547.2:p.Thr131Ser | |
| NM_000542.4:c.392C>G | NP_000533.4:p.Thr131Ser | |
| NM_001367281.1:c.392C>G | NP_001354210.1:p.Thr131Ser | |
| NM_198843.3:c.392C>G | NP_942140.3:p.Thr131Ser | |
| NM_000542.5:c.392C>G MANE Select | NP_000533.4:p.Thr131Ser |