Revel Score:
ENST00000376959
0.947
ENST00000477616 (MANE Select)
0.947
ENST00000443843
0.947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50323694C>T , CM000681.2:g.50323694C>T | GRCh38 |
| NC_000019.9:g.50826951C>T , CM000681.1:g.50826951C>T | GRCh37 |
| NC_000019.8:g.55518763C>T | NCBI36 |
| NG_008134.2:g.10684G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477616.2:c.1259G>A MANE Select | ENSP00000434241.1:p.Arg420His | |
| ENST00000670667.1:c.1259G>A | ENSP00000499301.1:p.Arg420His | |
| ENST00000376959.6:c.1259G>A | ENSP00000366158.2:p.Arg420His | |
| ENST00000474951.1:c.-74-2910G>A | ENSP00000432438.1:n.-74-2910G>A | |
| ENST00000477616.1:c.1259G>A | ENSP00000434241.1:p.Arg420His | |
| NM_004977.2:c.1259G>A | NP_004968.2:p.Arg420His | |
| NR_110912.1:n.48-2910G>A | ||
| XM_006723203.2:c.1259G>A | XP_006723266.1:p.Arg420His | |
| XM_011526925.1:c.1259G>A | XP_011525227.1:p.Arg420His | |
| XM_011526926.1:c.1259G>A | XP_011525228.1:p.Arg420His | |
| XM_011526927.1:c.1259G>A | XP_011525229.1:p.Arg420His | |
| XM_011526928.1:c.1259G>A | XP_011525230.1:p.Arg420His | |
| NM_001372305.1:c.1031G>A | NP_001359234.1:p.Arg344His | |
| NM_004977.3:c.1259G>A MANE Select | NP_004968.2:p.Arg420His | |
| NR_110912.2:n.69-2910G>A |