Revel Score:
ENST00000377432
0.941
ENST00000164139 (MANE Select)
0.941
ENST00000540450
0.941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64752064T>C , CM000673.2:g.64752064T>C | GRCh38 |
| NC_000011.9:g.64519536T>C , CM000673.1:g.64519536T>C | GRCh37 |
| NC_000011.8:g.64276112T>C | NCBI36 |
| NG_013018.1:g.13652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1628A>G MANE Select | ENSP00000164139.3:p.Lys543Arg | |
| ENST00000164139.3:c.1628A>G | ENSP00000164139.3:p.Lys543Arg | |
| ENST00000377432.7:c.1364A>G | ENSP00000366650.3:p.Lys455Arg | |
| NM_001164716.1:c.1364A>G | NP_001158188.1:p.Lys455Arg | |
| NM_005609.2:c.1628A>G | NP_005600.1:p.Lys543Arg | |
| NM_005609.3:c.1628A>G | NP_005600.1:p.Lys543Arg | |
| NM_005609.4:c.1628A>G MANE Select | NP_005600.1:p.Lys543Arg |