Revel Score:
ENST00000350721 (MANE Select)
0.663
ENST00000383101
0.663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142469458T>C , CM000665.2:g.142469458T>C | GRCh38 |
| NC_000003.11:g.142188300T>C , CM000665.1:g.142188300T>C | GRCh37 |
| NC_000003.10:g.143670990T>C | NCBI36 |
| NG_008951.1:g.114369A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.6431A>G MANE Select | ENSP00000343741.4:p.Gln2144Arg | |
| ENST00000513291.2:n.1615A>G | ||
| ENST00000654170.1:n.1274A>G | ||
| ENST00000656590.1:c.5221A>G | ||
| ENST00000661310.1:c.6239A>G | ENSP00000499589.1:p.Gln2080Arg | |
| ENST00000665483.1:n.286A>G | ||
| ENST00000666447.1:n.266A>G | ||
| ENST00000666943.1:n.1895A>G | ||
| ENST00000350721.8:c.6431A>G | ENSP00000343741.4:p.Gln2144Arg | |
| NM_001184.3:c.6431A>G | NP_001175.2:p.Gln2144Arg | |
| XM_011512924.1:c.6437A>G | XP_011511226.1:p.Gln2146Arg | |
| XM_011512925.1:c.6245A>G | XP_011511227.1:p.Gln2082Arg | |
| XR_924147.1:n.6526A>G | ||
| XR_924148.1:n.6526A>G | ||
| XR_924149.1:n.6405A>G | ||
| NM_001354579.1:c.6239A>G | NP_001341508.1:p.Gln2080Arg | |
| XR_001740179.2:n.6520A>G | ||
| XR_924148.2:n.6526A>G | ||
| NM_001184.4:c.6431A>G MANE Select | NP_001175.2:p.Gln2144Arg | |
| NM_001354579.2:c.6239A>G | NP_001341508.1:p.Gln2080Arg |