Revel Score:
ENST00000373588 (MANE Select)
0.982
ENST00000373587
0.982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124482934A>C , CM000671.2:g.124482934A>C | GRCh38 |
| NC_000009.11:g.127245213A>C , CM000671.1:g.127245213A>C | GRCh37 |
| NC_000009.10:g.126285034A>C | NCBI36 |
| NG_008176.1:g.29487T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.1210T>G MANE Select | ENSP00000362690.4:p.Tyr404Asp | |
| ENST00000373587.3:c.562T>G | ENSP00000362689.3:p.Tyr188Asp | |
| ENST00000373588.8:c.1210T>G | ENSP00000362690.4:p.Tyr404Asp | |
| ENST00000620110.4:c.1090T>G | ENSP00000483309.1:p.Tyr364Asp | |
| NM_004959.4:c.1210T>G | NP_004950.2:p.Tyr404Asp | |
| XM_005251871.2:c.1210T>G | XP_005251928.1:p.Tyr404Asp | |
| XM_005251872.3:c.949T>G | XP_005251929.1:p.Tyr317Asp | |
| XM_011518455.1:c.1210T>G | XP_011516757.1:p.Tyr404Asp | |
| XM_011518456.1:c.*66T>G | XP_011516758.1:n.*66T>G | |
| NM_004959.5:c.1210T>G MANE Select | NP_004950.2:p.Tyr404Asp |