Revel Score:
ENST00000261799 (MANE Select)
0.493
ENST00000544453
0.493
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150117796G>C , CM000667.2:g.150117796G>C | GRCh38 |
| NC_000005.9:g.149497359G>C , CM000667.1:g.149497359G>C | GRCh37 |
| NC_000005.8:g.149477552G>C | NCBI36 |
| NG_012303.1:g.577C>G | |
| NG_023367.1:g.43064C>G | |
| NG_012303.2:g.577C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.9:c.2959C>G MANE Select | ENSP00000261799.4:p.Arg987Gly | |
| ENST00000261799.8:c.2959C>G | ENSP00000261799.4:p.Arg987Gly | |
| ENST00000520579.5:c.*2273C>G | ENSP00000430026.1:n.*2273C>G | |
| NM_002609.3:c.2959C>G | NP_002600.1:p.Arg987Gly | |
| XM_005268464.2:c.2767C>G | XP_005268521.1:p.Arg923Gly | |
| XM_011537658.1:c.2959C>G | XP_011535960.1:p.Arg987Gly | |
| XM_011537659.1:c.2959C>G | XP_011535961.1:p.Arg987Gly | |
| NM_001355016.1:c.2767C>G | NP_001341945.1:p.Arg923Gly | |
| NM_001355017.1:c.2476C>G | NP_001341946.1:p.Arg826Gly | |
| NM_002609.4:c.2959C>G MANE Select | NP_002600.1:p.Arg987Gly | |
| NM_001355016.2:c.2767C>G | NP_001341945.1:p.Arg923Gly | |
| NM_001355017.2:c.2476C>G | NP_001341946.1:p.Arg826Gly |