Revel Score:
ENST00000381178
0.932
ENST00000381175
0.932
ENST00000352909 (MANE Select)
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166762G>C , CM000673.2:g.2166762G>C | GRCh38 |
| NC_000011.9:g.2187992G>C , CM000673.1:g.2187992G>C | GRCh37 |
| NC_000011.8:g.2144568G>C | NCBI36 |
| NG_008128.1:g.10044C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.848C>G MANE Select | ENSP00000325951.4:p.Thr283Arg | |
| ENST00000324155.8:c.*537C>G | ENSP00000325831.3:n.*537C>G | |
| ENST00000333684.9:c.696-213C>G | ENSP00000328814.6:n.696-213C>G | |
| ENST00000352909.7:c.848C>G | ENSP00000325951.3:p.Thr283Arg | |
| ENST00000381168.7:c.*568C>G | ENSP00000370560.3:n.*568C>G | |
| ENST00000381175.5:c.929C>G | ENSP00000370567.1:p.Thr310Arg | |
| ENST00000381178.5:c.941C>G | ENSP00000370571.1:p.Thr314Arg | |
| ENST00000412076.1:c.136-213C>G | ||
| ENST00000416223.5:c.142C>G | ||
| ENST00000461172.1:n.13C>G | ||
| ENST00000479437.5:n.397C>G | ||
| NM_000360.3:c.848C>G | NP_000351.2:p.Thr283Arg | |
| NM_199292.2:c.941C>G | NP_954986.2:p.Thr314Arg | |
| NM_199293.2:c.929C>G | NP_954987.2:p.Thr310Arg | |
| XM_011520335.1:c.860C>G | XP_011518637.1:p.Thr287Arg | |
| XM_011520335.2:c.860C>G | XP_011518637.1:p.Thr287Arg | |
| NM_000360.4:c.848C>G MANE Select | NP_000351.2:p.Thr283Arg | |
| NM_199292.3:c.941C>G | NP_954986.2:p.Thr314Arg | |
| NM_199293.3:c.929C>G | NP_954987.2:p.Thr310Arg |