Revel Score:
ENST00000471660
0.754
ENST00000263780 (MANE Select)
0.754
ENST00000494980
0.754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87253421G>T , CM000665.2:g.87253421G>T | GRCh38 |
| NC_000003.11:g.87302571G>T , CM000665.1:g.87302571G>T | GRCh37 |
| NC_000003.10:g.87385261G>T | NCBI36 |
| NG_007885.1:g.31159G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.442G>T MANE Select | ENSP00000263780.4:p.Asp148Tyr | |
| ENST00000472024.3:c.490G>T | ENSP00000480032.2:p.Asp164Tyr | |
| ENST00000676705.1:c.490G>T | ENSP00000504098.1:p.Asp164Tyr | |
| ENST00000677929.1:n.4106G>T | ||
| ENST00000678859.1:n.4191G>T | ||
| ENST00000263780.8:c.442G>T | ENSP00000263780.4:p.Asp148Tyr | |
| ENST00000466696.1:n.373G>T | ||
| ENST00000471660.5:c.319G>T | ENSP00000419998.1:p.Asp107Tyr | |
| ENST00000472024.2:c.490G>T | ENSP00000480032.1:p.Asp164Tyr | |
| ENST00000494980.5:c.352G>T | ENSP00000418920.1:p.Asp118Tyr | |
| NM_001244644.1:c.319G>T | NP_001231573.1:p.Asp107Tyr | |
| NM_014043.3:c.442G>T | NP_054762.2:p.Asp148Tyr | |
| XM_011533576.1:c.490G>T | XP_011531878.1:p.Asp164Tyr | |
| XM_011533576.2:c.490G>T | XP_011531878.1:p.Asp164Tyr | |
| NM_014043.4:c.442G>T MANE Select | NP_054762.2:p.Asp148Tyr | |
| NM_001244644.2:c.319G>T | NP_001231573.1:p.Asp107Tyr |