Revel Score:
ENST00000360168
0.077
ENST00000358945
0.077
ENST00000540037
0.077
ENST00000228916 (MANE Select)
0.077
ENST00000543768
0.077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6347895G>C , CM000674.2:g.6347895G>C | GRCh38 |
| NC_000012.11:g.6457061G>C , CM000674.1:g.6457061G>C | GRCh37 |
| NC_000012.10:g.6327322G>C | NCBI36 |
| NG_011945.1:g.34463C>G | |
| NG_011945.2:g.34463C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1988C>G MANE Select | ENSP00000228916.2:p.Thr663Ser | |
| ENST00000228916.6:c.1988C>G | ENSP00000228916.2:p.Thr663Ser | |
| ENST00000338748.9:c.*1059C>G | ENSP00000345028.5:n.*1059C>G | |
| ENST00000360168.7:c.2165C>G | ENSP00000353292.3:p.Thr722Ser | |
| ENST00000396966.6:c.*394C>G | ENSP00000380166.2:n.*394C>G | |
| ENST00000540037.5:c.1088C>G | ENSP00000440876.1:p.Thr363Ser | |
| ENST00000543768.1:c.2057C>G | ENSP00000438739.1:p.Thr686Ser | |
| NM_001038.5:c.1988C>G | NP_001029.1:p.Thr663Ser | |
| NM_001159575.1:c.2057C>G | NP_001153047.1:p.Thr686Ser | |
| NM_001159576.1:c.2165C>G | NP_001153048.1:p.Thr722Ser | |
| NM_001038.6:c.1988C>G MANE Select | NP_001029.1:p.Thr663Ser | |
| NM_001159576.2:c.2165C>G | NP_001153048.1:p.Thr722Ser | |
| NM_001159575.2:c.2057C>G | NP_001153047.1:p.Thr686Ser |