Revel Score:
ENST00000261590 (MANE Select)
0.145
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524526C>G , CM000680.2:g.31524526C>G | GRCh38 |
| NC_000018.9:g.29104489C>G , CM000680.1:g.29104489C>G | GRCh37 |
| NC_000018.8:g.27358487C>G | NCBI36 |
| NG_007072.3:g.31285C>G , LRG_397:g.31285C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.600C>G | ||
| ENST00000683614.2:n.600C>G | ||
| ENST00000682087.1:c.600C>G | ||
| ENST00000683614.1:c.600C>G | ||
| ENST00000261590.13:c.769C>G MANE Select | ENSP00000261590.8:p.Gln257Glu | |
| ENST00000261590.12:c.769C>G | ENSP00000261590.8:p.Gln257Glu | |
| NM_001943.3:c.769C>G , LRG_397t1:c.769C>G | NP_001934.2:p.Gln257Glu | |
| NM_001943.4:c.769C>G | NP_001934.2:p.Gln257Glu | |
| XM_024451095.1:c.235C>G | XP_024306863.1:p.Gln79Glu | |
| NM_001943.5:c.769C>G MANE Select | NP_001934.2:p.Gln257Glu |