Revel Score:
ENST00000282516 (MANE Select)
0.812
ENST00000448238
0.812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37057223A>G , CM000667.2:g.37057223A>G | GRCh38 |
| NC_000005.9:g.37057325A>G , CM000667.1:g.37057325A>G | GRCh37 |
| NC_000005.8:g.37093082A>G | NCBI36 |
| NG_006987.1:g.185341A>G | |
| NG_006987.2:g.185341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.7301A>G MANE Select | ENSP00000282516.8:p.Asn2434Ser | |
| ENST00000652901.1:c.7264-1668A>G | ENSP00000499536.1:n.7264-1668A>G | |
| ENST00000282516.12:c.7301A>G | ENSP00000282516.8:p.Asn2434Ser | |
| ENST00000448238.2:c.7301A>G | ENSP00000406266.2:p.Asn2434Ser | |
| ENST00000514335.1:n.1183A>G | ||
| ENST00000621733.1:c.1-7355A>G | ENSP00000480694.1:n.1-7355A>G | |
| NM_015384.4:c.7301A>G | NP_056199.2:p.Asn2434Ser | |
| NM_133433.3:c.7301A>G | NP_597677.2:p.Asn2434Ser | |
| XM_005248280.2:c.7301A>G | XP_005248337.1:p.Asn2434Ser | |
| XM_005248282.3:c.6557A>G | XP_005248339.2:p.Asn2186Ser | |
| XM_006714467.2:c.7264-1668A>G | XP_006714530.1:n.7264-1668A>G | |
| XM_006714468.1:c.7103A>G | XP_006714531.1:p.Asn2368Ser | |
| XM_011514014.1:c.6920A>G | XP_011512316.1:p.Asn2307Ser | |
| XM_011514015.1:c.7264-3621A>G | XP_011512317.1:n.7264-3621A>G | |
| XM_005248280.3:c.7301A>G | XP_005248337.1:p.Asn2434Ser | |
| XM_005248282.5:c.6641A>G | XP_005248339.3:p.Asn2214Ser | |
| XM_006714468.2:c.7103A>G | XP_006714531.1:p.Asn2368Ser | |
| XM_017009329.1:c.7264-1668A>G | XP_016864818.1:n.7264-1668A>G | |
| XM_017009330.2:c.5684A>G | XP_016864819.1:p.Asn1895Ser | |
| XM_017009331.1:c.5675A>G | XP_016864820.1:p.Asn1892Ser | |
| NM_133433.4:c.7301A>G MANE Select | NP_597677.2:p.Asn2434Ser | |
| NM_015384.5:c.7301A>G | NP_056199.2:p.Asn2434Ser |