Revel Score:
ENST00000295754 (MANE Select)
0.922
ENST00000359013
0.922
ENST00000439925
0.922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674196C>G , CM000665.2:g.30674196C>G | GRCh38 |
| NC_000003.11:g.30715688C>G , CM000665.1:g.30715688C>G | GRCh37 |
| NC_000003.10:g.30690692C>G | NCBI36 |
| NG_007490.1:g.72695C>G , LRG_779:g.72695C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1346C>G MANE Select | ENSP00000295754.5:p.Ser449Cys | |
| ENST00000672866.1:n.2942C>G | ||
| ENST00000673203.1:n.224C>G | ||
| ENST00000295754.9:c.1346C>G | ENSP00000295754.5:p.Ser449Cys | |
| ENST00000359013.4:c.1421C>G | ENSP00000351905.4:p.Ser474Cys | |
| NM_001024847.2:c.1421C>G , LRG_779t1:c.1421C>G | NP_001020018.1:p.Ser474Cys | |
| NM_003242.5:c.1346C>G | NP_003233.4:p.Ser449Cys | |
| XM_011534043.1:c.1373C>G | XP_011532345.1:p.Ser458Cys | |
| XM_011534044.1:c.1298C>G | XP_011532346.1:p.Ser433Cys | |
| XM_011534045.1:c.1241C>G | XP_011532347.1:p.Ser414Cys | |
| XM_011534043.2:c.1373C>G | XP_011532345.1:p.Ser458Cys | |
| XM_011534045.3:c.1241C>G | XP_011532347.1:p.Ser414Cys | |
| XM_017007106.1:c.1241C>G | XP_016862595.1:p.Ser414Cys | |
| NM_003242.6:c.1346C>G MANE Select | NP_003233.4:p.Ser449Cys |