Revel Score:
ENST00000374994 (MANE Select)
0.709
ENST00000540092
0.709
ENST00000374990
0.709
ENST00000552516
0.709
ENST00000550253
0.709
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99142554A>G , CM000671.2:g.99142554A>G | GRCh38 |
| NC_000009.11:g.101904836A>G , CM000671.1:g.101904836A>G | GRCh37 |
| NC_000009.10:g.100944657A>G | NCBI36 |
| NG_007461.1:g.42425A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.617A>G | ENSP00000449934.2:p.Gln206Arg | |
| ENST00000552573.7:c.629A>G | ENSP00000447182.3:p.Gln210Arg | |
| ENST00000548365.6:c.398A>G | ENSP00000448518.2:p.Gln133Arg | |
| ENST00000549021.6:c.386A>G | ENSP00000449028.2:p.Gln129Arg | |
| ENST00000698941.1:c.629A>G | ENSP00000514048.1:p.Gln210Arg | |
| ENST00000698942.1:c.*620A>G | ENSP00000514049.1:n.*620A>G | |
| ENST00000374994.9:c.824A>G MANE Select | ENSP00000364133.4:p.Gln275Arg | |
| ENST00000374990.6:c.593A>G | ENSP00000364129.2:p.Gln198Arg | |
| ENST00000374994.8:c.824A>G | ENSP00000364133.4:p.Gln275Arg | |
| ENST00000549766.5:c.836A>G | ENSP00000446685.1:p.Gln279Arg | |
| ENST00000550253.1:c.617A>G | ENSP00000450052.1:p.Gln206Arg | |
| ENST00000552516.5:c.836A>G | ENSP00000447297.1:p.Gln279Arg | |
| NM_001130916.1:c.593A>G | NP_001124388.1:p.Gln198Arg | |
| NM_001130916.2:c.593A>G | NP_001124388.1:p.Gln198Arg | |
| NM_001306210.1:c.836A>G | NP_001293139.1:p.Gln279Arg | |
| NM_004612.2:c.824A>G | NP_004603.1:p.Gln275Arg | |
| NM_004612.3:c.824A>G | NP_004603.1:p.Gln275Arg | |
| XM_011518948.1:c.629A>G | XP_011517250.1:p.Gln210Arg | |
| XM_011518949.1:c.617A>G | XP_011517251.1:p.Gln206Arg | |
| XM_011518950.1:c.386A>G | XP_011517252.1:p.Gln129Arg | |
| XM_011518948.2:c.629A>G | XP_011517250.1:p.Gln210Arg | |
| XM_011518949.2:c.617A>G | XP_011517251.1:p.Gln206Arg | |
| XM_011518950.2:c.386A>G | XP_011517252.1:p.Gln129Arg | |
| XM_017015063.1:c.629A>G | XP_016870552.1:p.Gln210Arg | |
| XM_024447658.1:c.617A>G | XP_024303426.1:p.Gln206Arg | |
| NM_004612.4:c.824A>G MANE Select | NP_004603.1:p.Gln275Arg | |
| NM_001130916.3:c.593A>G | NP_001124388.1:p.Gln198Arg | |
| NM_001306210.2:c.836A>G | NP_001293139.1:p.Gln279Arg |