Revel Score:
ENST00000262367 (MANE Select)
0.144
ENST00000543883
0.144
ENST00000382070
0.144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3770721G>C , CM000678.2:g.3770721G>C | GRCh38 |
| NC_000016.9:g.3820722G>C , CM000678.1:g.3820722G>C | GRCh37 |
| NC_000016.8:g.3760723G>C | NCBI36 |
| NG_009873.1:g.114400C>G | |
| NG_009873.2:g.114993C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2729C>G MANE Select | ENSP00000262367.5:p.Thr910Ser | |
| ENST00000262367.9:c.2729C>G | ENSP00000262367.5:p.Thr910Ser | |
| ENST00000382070.7:c.2615C>G | ENSP00000371502.3:p.Thr872Ser | |
| ENST00000570939.2:c.1334C>G | ENSP00000461002.2:p.Thr445Ser | |
| NM_001079846.1:c.2615C>G | NP_001073315.1:p.Thr872Ser | |
| NM_004380.2:c.2729C>G | NP_004371.2:p.Thr910Ser | |
| XM_005255124.3:c.2684C>G | XP_005255181.1:p.Thr895Ser | |
| XM_005255125.3:c.2464-1368C>G | XP_005255182.1:n.2464-1368C>G | |
| XM_006720848.2:c.2729C>G | XP_006720911.1:p.Thr910Ser | |
| XM_011522380.1:c.2675C>G | XP_011520682.1:p.Thr892Ser | |
| XM_011522381.1:c.1976C>G | XP_011520683.1:p.Thr659Ser | |
| XM_011522382.1:c.2729C>G | XP_011520684.1:p.Thr910Ser | |
| XM_005255124.4:c.2684C>G | XP_005255181.1:p.Thr895Ser | |
| XM_005255125.4:c.2464-1368C>G | XP_005255182.1:n.2464-1368C>G | |
| XM_006720848.3:c.2729C>G | XP_006720911.1:p.Thr910Ser | |
| XM_011522381.2:c.1976C>G | XP_011520683.1:p.Thr659Ser | |
| XM_011522382.3:c.2729C>G | XP_011520684.1:p.Thr910Ser | |
| XM_017022944.1:c.2723C>G | XP_016878433.1:p.Thr908Ser | |
| NM_004380.3:c.2729C>G MANE Select | NP_004371.2:p.Thr910Ser |