Revel Score:
ENST00000350721 (MANE Select)
0.634
ENST00000383101
0.634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142469458T>A , CM000665.2:g.142469458T>A | GRCh38 |
| NC_000003.11:g.142188300T>A , CM000665.1:g.142188300T>A | GRCh37 |
| NC_000003.10:g.143670990T>A | NCBI36 |
| NG_008951.1:g.114369A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.6431A>T MANE Select | ENSP00000343741.4:p.Gln2144Leu | |
| ENST00000513291.2:n.1615A>T | ||
| ENST00000654170.1:n.1274A>T | ||
| ENST00000656590.1:c.5221A>T | ||
| ENST00000661310.1:c.6239A>T | ENSP00000499589.1:p.Gln2080Leu | |
| ENST00000665483.1:n.286A>T | ||
| ENST00000666447.1:n.266A>T | ||
| ENST00000666943.1:n.1895A>T | ||
| ENST00000350721.8:c.6431A>T | ENSP00000343741.4:p.Gln2144Leu | |
| NM_001184.3:c.6431A>T | NP_001175.2:p.Gln2144Leu | |
| XM_011512924.1:c.6437A>T | XP_011511226.1:p.Gln2146Leu | |
| XM_011512925.1:c.6245A>T | XP_011511227.1:p.Gln2082Leu | |
| XR_924147.1:n.6526A>T | ||
| XR_924148.1:n.6526A>T | ||
| XR_924149.1:n.6405A>T | ||
| NM_001354579.1:c.6239A>T | NP_001341508.1:p.Gln2080Leu | |
| XR_001740179.2:n.6520A>T | ||
| XR_924148.2:n.6526A>T | ||
| NM_001184.4:c.6431A>T MANE Select | NP_001175.2:p.Gln2144Leu | |
| NM_001354579.2:c.6239A>T | NP_001341508.1:p.Gln2080Leu |