Revel Score:
ENST00000369406 (MANE Select)
0.869
ENST00000544913
0.869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119755452C>G , CM000663.2:g.119755452C>G | GRCh38 |
| NC_000001.10:g.120298075C>G , CM000663.1:g.120298075C>G | GRCh37 |
| NC_000001.9:g.120099598C>G | NCBI36 |
| NG_013348.1:g.18481G>C , LRG_447:g.18481G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1162G>C MANE Select | ENSP00000358414.3:p.Gly388Arg | |
| ENST00000369406.7:c.1162G>C | ENSP00000358414.3:p.Gly388Arg | |
| ENST00000472375.5:n.609G>C | ||
| ENST00000544913.2:c.1036G>C | ENSP00000439495.2:p.Gly346Arg | |
| NM_001166107.1:c.1036G>C , LRG_447t2:c.1036G>C | NP_001159579.1:p.Gly346Arg | |
| NM_005518.3:c.1162G>C , LRG_447t1:c.1162G>C | NP_005509.1:p.Gly388Arg | |
| XM_011541313.1:c.997G>C | XP_011539615.1:p.Gly333Arg | |
| XM_011541313.2:c.997G>C | XP_011539615.1:p.Gly333Arg | |
| NM_005518.4:c.1162G>C MANE Select | NP_005509.1:p.Gly388Arg |