Revel Score:
ENST00000263275 (MANE Select)
0.176
ENST00000544371
0.176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45553741G>T , CM000681.2:g.45553741G>T | GRCh38 |
| NC_000019.9:g.46056999G>T , CM000681.1:g.46056999G>T | GRCh37 |
| NC_000019.8:g.50748839G>T | NCBI36 |
| NG_013332.1:g.36124C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323060.4:c.143-24285C>A | ENSP00000319817.3:n.143-24285C>A | |
| ENST00000263275.5:c.313C>A MANE Select | ENSP00000263275.4:p.Gln105Lys | |
| ENST00000263275.4:c.313C>A | ENSP00000263275.3:p.Gln105Lys | |
| ENST00000323060.3:c.143-24285C>A | ENSP00000319817.3:n.143-24285C>A | |
| ENST00000544371.1:c.154C>A | ENSP00000442839.1:p.Gln52Lys | |
| NM_001017989.2:c.143-24285C>A | NP_001017989.2:n.143-24285C>A | |
| NM_025136.3:c.313C>A | NP_079412.1:p.Gln105Lys | |
| XM_005259278.2:c.154C>A | XP_005259335.1:p.Gln52Lys | |
| XM_006723403.2:c.154C>A | XP_006723466.1:p.Gln52Lys | |
| XM_011527348.1:c.-17-24285C>A | XP_011525650.1:n.-17-24285C>A | |
| XM_006723403.4:c.154C>A | XP_006723466.1:p.Gln52Lys | |
| NM_001017989.3:c.143-24285C>A | NP_001017989.2:n.143-24285C>A | |
| NM_025136.4:c.313C>A MANE Select | NP_079412.1:p.Gln105Lys |