Revel Score:
ENST00000295754 (MANE Select)
0.198
ENST00000359013
0.198
ENST00000439925
0.198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691426C>G , CM000665.2:g.30691426C>G | GRCh38 |
| NC_000003.11:g.30732918C>G , CM000665.1:g.30732918C>G | GRCh37 |
| NC_000003.10:g.30707922C>G | NCBI36 |
| NG_007490.1:g.89925C>G , LRG_779:g.89925C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1531C>G MANE Select | ENSP00000295754.5:p.Gln511Glu | |
| ENST00000672050.1:n.415C>G | ||
| ENST00000672866.1:n.3127C>G | ||
| ENST00000673203.1:n.409C>G | ||
| ENST00000295754.9:c.1531C>G | ENSP00000295754.5:p.Gln511Glu | |
| ENST00000359013.4:c.1606C>G | ENSP00000351905.4:p.Gln536Glu | |
| NM_001024847.2:c.1606C>G , LRG_779t1:c.1606C>G | NP_001020018.1:p.Gln536Glu | |
| NM_003242.5:c.1531C>G | NP_003233.4:p.Gln511Glu | |
| XM_011534043.1:c.1558C>G | XP_011532345.1:p.Gln520Glu | |
| XM_011534044.1:c.1483C>G | XP_011532346.1:p.Gln495Glu | |
| XM_011534045.1:c.1426C>G | XP_011532347.1:p.Gln476Glu | |
| XM_011534043.2:c.1558C>G | XP_011532345.1:p.Gln520Glu | |
| XM_011534045.3:c.1426C>G | XP_011532347.1:p.Gln476Glu | |
| XM_017007106.1:c.1426C>G | XP_016862595.1:p.Gln476Glu | |
| NM_003242.6:c.1531C>G MANE Select | NP_003233.4:p.Gln511Glu |