Revel Score:
ENST00000395514
0.333
ENST00000543643
0.333
ENST00000491895 (MANE Select)
0.333
ENST00000536224
0.333
ENST00000395524
0.333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54902522G>T , CM000676.2:g.54902522G>T | GRCh38 |
| NC_000014.8:g.55369240G>T , CM000676.1:g.55369240G>T | GRCh37 |
| NC_000014.7:g.54438990G>T | NCBI36 |
| NG_008647.1:g.5303C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.142C>A MANE Select | ENSP00000419045.2:p.Gln48Lys | |
| ENST00000254299.8:n.290C>A | ||
| ENST00000395514.5:c.142C>A | ENSP00000378890.1:p.Gln48Lys | |
| ENST00000491895.6:c.142C>A | ENSP00000419045.2:p.Gln48Lys | |
| ENST00000536224.2:c.142C>A | ENSP00000445246.2:p.Gln48Lys | |
| ENST00000543643.6:c.142C>A | ENSP00000444011.2:p.Gln48Lys | |
| ENST00000622544.4:c.142C>A | ENSP00000477796.1:p.Gln48Lys | |
| NM_000161.2:c.142C>A | NP_000152.1:p.Gln48Lys | |
| NM_001024024.1:c.142C>A | NP_001019195.1:p.Gln48Lys | |
| NM_001024070.1:c.142C>A | NP_001019241.1:p.Gln48Lys | |
| NM_001024071.1:c.142C>A | NP_001019242.1:p.Gln48Lys | |
| XM_005267530.1:c.142C>A | XP_005267587.1:p.Gln48Lys | |
| XM_011536643.1:c.142C>A | XP_011534945.1:p.Gln48Lys | |
| NM_000161.3:c.142C>A MANE Select | NP_000152.1:p.Gln48Lys | |
| NM_001024070.2:c.142C>A | NP_001019241.1:p.Gln48Lys | |
| NM_001024071.2:c.142C>A | NP_001019242.1:p.Gln48Lys | |
| NM_001024024.2:c.142C>A | NP_001019195.1:p.Gln48Lys |