Revel Score:
ENST00000279146 (MANE Select)
0.243
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490910C>G , CM000673.2:g.67490910C>G | GRCh38 |
| NC_000011.9:g.67258381C>G , CM000673.1:g.67258381C>G | GRCh37 |
| NC_000011.8:g.67014957C>G | NCBI36 |
| NG_008969.1:g.12877C>G , LRG_460:g.12877C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.1217C>G | ||
| ENST00000528641.7:c.721C>G | ENSP00000434982.3:p.Arg241Gly | |
| ENST00000529797.2:n.1752C>G | ||
| ENST00000682324.1:c.469-87C>G | ENSP00000508017.1:n.469-87C>G | |
| ENST00000682659.1:c.541C>G | ENSP00000507351.1:p.Arg181Gly | |
| ENST00000682699.1:c.910C>G | ENSP00000507935.1:p.Arg304Gly | |
| ENST00000683237.1:c.*50C>G | ENSP00000507343.1:n.*50C>G | |
| ENST00000683856.1:c.733C>G | ENSP00000507979.1:p.Arg245Gly | |
| ENST00000684006.1:c.*50C>G | ENSP00000507269.1:n.*50C>G | |
| ENST00000684657.1:c.730C>G | ENSP00000507961.1:p.Arg244Gly | |
| ENST00000279146.8:c.910C>G MANE Select | ENSP00000279146.3:p.Arg304Gly | |
| ENST00000279146.7:c.910C>G | ENSP00000279146.3:p.Arg304Gly | |
| NM_001302959.1:c.733C>G | NP_001289888.1:p.Arg245Gly | |
| NM_001302960.1:c.*50C>G | NP_001289889.1:n.*50C>G | |
| NM_003977.3:c.910C>G | NP_003968.3:p.Arg304Gly | |
| XM_024448761.1:c.910C>G | XP_024304529.1:p.Arg304Gly | |
| NM_003977.4:c.910C>G MANE Select | NP_003968.3:p.Arg304Gly | |
| NM_001302960.2:c.*50C>G | NP_001289889.1:n.*50C>G | |
| NM_001302959.2:c.733C>G | NP_001289888.1:p.Arg245Gly |