Revel Score:
ENST00000247933
0.918
ENST00000453894
0.918
ENST00000514224 (MANE Select)
0.918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002341G>T , CM000666.2:g.1002341G>T | GRCh38 |
| NC_000004.11:g.996129G>T , CM000666.1:g.996129G>T | GRCh37 |
| NC_000004.10:g.986129G>T | NCBI36 |
| NG_008103.1:g.20345G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1045G>T | ENSP00000247933.4:p.Asp349Tyr | |
| ENST00000514224.2:c.1045G>T MANE Select | ENSP00000425081.2:p.Asp349Tyr | |
| ENST00000652070.1:n.1101G>T | ||
| ENST00000247933.8:c.1045G>T | ENSP00000247933.4:p.Asp349Tyr | |
| ENST00000514224.1:c.649G>T | ENSP00000425081.1:p.Asp217Tyr | |
| ENST00000514698.5:n.1152G>T | ||
| NM_000203.4:c.1045G>T | NP_000194.2:p.Asp349Tyr | |
| NR_110313.1:n.1133G>T | ||
| XM_006713882.2:c.649G>T | XP_006713945.1:p.Asp217Tyr | |
| XM_011513459.1:c.1111G>T | XP_011511761.1:p.Asp371Tyr | |
| XM_011513460.1:c.904G>T | XP_011511762.1:p.Asp302Tyr | |
| XM_011513461.1:c.838G>T | XP_011511763.1:p.Asp280Tyr | |
| XM_011513462.1:c.757G>T | XP_011511764.1:p.Asp253Tyr | |
| XM_011513463.1:c.757G>T | XP_011511765.1:p.Asp253Tyr | |
| XR_924947.1:n.1114G>T | ||
| NM_000203.5:c.1045G>T MANE Select | NP_000194.2:p.Asp349Tyr | |
| NM_001363576.1:c.649G>T | NP_001350505.1:p.Asp217Tyr | |
| XM_011513461.2:c.838G>T | XP_011511763.1:p.Asp280Tyr | |
| XM_017008163.1:c.85G>T | XP_016863652.1:p.Asp29Tyr |