Revel Score:
ENST00000256474 (MANE Select)
0.712
ENST00000345392
0.712
ENST00000450183
0.712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149894C>G , CM000665.2:g.10149894C>G | GRCh38 |
| NC_000003.11:g.10191578C>G , CM000665.1:g.10191578C>G | GRCh37 |
| NC_000003.10:g.10166578C>G | NCBI36 |
| NG_008212.3:g.13260C>G , LRG_322:g.13260C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*248C>G | ENSP00000512434.1:n.*248C>G | |
| ENST00000696143.1:c.707C>G | ENSP00000512435.1:n.707C>G | |
| ENST00000696153.1:c.682C>G | ENSP00000512444.1:p.His228Asp | |
| ENST00000256474.3:c.571C>G MANE Select | ENSP00000256474.3:p.His191Asp | |
| ENST00000256474.2:c.571C>G | ENSP00000256474.2:p.His191Asp | |
| ENST00000345392.2:c.448C>G | ENSP00000344757.2:p.His150Asp | |
| ENST00000477538.1:n.707C>G | ||
| NM_000551.3:c.571C>G , LRG_322t1:c.571C>G | NP_000542.1:p.His191Asp | |
| NM_198156.2:c.448C>G | NP_937799.1:p.His150Asp | |
| NM_001354723.1:c.*125C>G | NP_001341652.1:n.*125C>G | |
| NM_000551.4:c.571C>G MANE Select | NP_000542.1:p.His191Asp | |
| NM_001354723.2:c.*125C>G | NP_001341652.1:n.*125C>G | |
| NM_198156.3:c.448C>G | NP_937799.1:p.His150Asp |