Revel Score:
ENST00000282516 (MANE Select)
0.869
ENST00000448238
0.869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37022272G>A , CM000667.2:g.37022272G>A | GRCh38 |
| NC_000005.9:g.37022374G>A , CM000667.1:g.37022374G>A | GRCh37 |
| NC_000005.8:g.37058131G>A | NCBI36 |
| NG_006987.1:g.150390G>A | |
| NG_006987.2:g.150390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.5456G>A MANE Select | ENSP00000282516.8:p.Arg1819Gln | |
| ENST00000652901.1:c.5456G>A | ENSP00000499536.1:p.Arg1819Gln | |
| ENST00000282516.12:c.5456G>A | ENSP00000282516.8:p.Arg1819Gln | |
| ENST00000448238.2:c.5456G>A | ENSP00000406266.2:p.Arg1819Gln | |
| ENST00000621733.1:c.1-42306G>A | ENSP00000480694.1:n.1-42306G>A | |
| NM_015384.4:c.5456G>A | NP_056199.2:p.Arg1819Gln | |
| NM_133433.3:c.5456G>A | NP_597677.2:p.Arg1819Gln | |
| XM_005248280.2:c.5456G>A | XP_005248337.1:p.Arg1819Gln | |
| XM_005248282.3:c.4712G>A | XP_005248339.2:p.Arg1571Gln | |
| XM_006714467.2:c.5456G>A | XP_006714530.1:p.Arg1819Gln | |
| XM_006714468.1:c.5258G>A | XP_006714531.1:p.Arg1753Gln | |
| XM_011514014.1:c.5075G>A | XP_011512316.1:p.Arg1692Gln | |
| XM_011514015.1:c.5456G>A | XP_011512317.1:p.Arg1819Gln | |
| XM_005248280.3:c.5456G>A | XP_005248337.1:p.Arg1819Gln | |
| XM_005248282.5:c.4796G>A | XP_005248339.3:p.Arg1599Gln | |
| XM_006714468.2:c.5258G>A | XP_006714531.1:p.Arg1753Gln | |
| XM_017009329.1:c.5456G>A | XP_016864818.1:p.Arg1819Gln | |
| XM_017009330.2:c.3839G>A | XP_016864819.1:p.Arg1280Gln | |
| XM_017009331.1:c.3830G>A | XP_016864820.1:p.Arg1277Gln | |
| NM_133433.4:c.5456G>A MANE Select | NP_597677.2:p.Arg1819Gln | |
| NM_015384.5:c.5456G>A | NP_056199.2:p.Arg1819Gln |