Revel Score:
ENST00000357749 (MANE Select)
0.060
ENST00000537751
0.060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85911292G>C , CM000685.2:g.85911292G>C | GRCh38 |
| NC_000023.10:g.85166297G>C , CM000685.1:g.85166297G>C | GRCh37 |
| NC_000023.9:g.85052953G>C | NCBI36 |
| NG_009874.2:g.141271C>G , LRG_699:g.141271C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.1213C>G MANE Select | ENSP00000350386.2:p.Gln405Glu | |
| ENST00000357749.6:c.1213C>G | ENSP00000350386.2:p.Gln405Glu | |
| ENST00000467744.2:n.127-48198C>G | ||
| NM_000390.2:c.1213C>G , LRG_699t1:c.1213C>G | NP_000381.1:p.Gln405Glu | |
| XM_006724615.2:c.1150C>G | XP_006724678.1:p.Gln384Glu | |
| XM_011530839.1:c.769C>G | XP_011529141.1:p.Gln257Glu | |
| NM_000390.3:c.1213C>G | NP_000381.1:p.Gln405Glu | |
| NM_001320959.1:c.769C>G | NP_001307888.1:p.Gln257Glu | |
| NM_001362517.1:c.769C>G | NP_001349446.1:p.Gln257Glu | |
| NM_001362518.1:c.769C>G | NP_001349447.1:p.Gln257Glu | |
| NM_001362519.1:c.769C>G | NP_001349448.1:p.Gln257Glu | |
| XM_017029242.2:c.1213C>G | XP_016884731.1:p.Gln405Glu | |
| XM_017029246.1:c.769C>G | XP_016884735.1:p.Gln257Glu | |
| XM_024452331.1:c.769C>G | XP_024308099.1:p.Gln257Glu | |
| NM_000390.4:c.1213C>G MANE Select | NP_000381.1:p.Gln405Glu | |
| NM_001362518.2:c.769C>G | NP_001349447.1:p.Gln257Glu |