Revel Score:
ENST00000369406 (MANE Select)
0.982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119759915C>G , CM000663.2:g.119759915C>G | GRCh38 |
| NC_000001.10:g.120302538C>G , CM000663.1:g.120302538C>G | GRCh37 |
| NC_000001.9:g.120104061C>G | NCBI36 |
| NG_013348.1:g.14018G>C , LRG_447:g.14018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.634G>C MANE Select | ENSP00000358414.3:p.Gly212Arg | |
| ENST00000369406.7:c.634G>C | ENSP00000358414.3:p.Gly212Arg | |
| ENST00000476640.1:n.530G>C | ||
| ENST00000544913.2:c.560-633G>C | ENSP00000439495.2:n.560-633G>C | |
| NM_001166107.1:c.560-633G>C , LRG_447t2:c.560-633G>C | NP_001159579.1:n.560-633G>C | |
| NM_005518.3:c.634G>C , LRG_447t1:c.634G>C | NP_005509.1:p.Gly212Arg | |
| XM_011541313.1:c.634G>C | XP_011539615.1:p.Gly212Arg | |
| XM_011541313.2:c.634G>C | XP_011539615.1:p.Gly212Arg | |
| NM_005518.4:c.634G>C MANE Select | NP_005509.1:p.Gly212Arg |