Revel Score:
ENST00000371741 (MANE Select)
0.778
ENST00000538812
0.778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49374295T>G , CM000682.2:g.49374295T>G | GRCh38 |
| NC_000020.10:g.47990832T>G , CM000682.1:g.47990832T>G | GRCh37 |
| NC_000020.9:g.47424239T>G | NCBI36 |
| NG_041781.1:g.113350A>C | |
| NG_041781.2:g.113350A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371741.6:c.1265A>C MANE Select | ENSP00000360806.3:p.Glu422Ala | |
| ENST00000635878.1:c.97-74912A>C | ENSP00000489908.1:n.97-74912A>C | |
| ENST00000637341.1:n.206+42271T>G | ||
| ENST00000371741.5:c.1265A>C | ENSP00000360806.3:p.Glu422Ala | |
| ENST00000635465.1:c.1265A>C | ENSP00000489193.1:p.Glu422Ala | |
| NM_004975.2:c.1265A>C | NP_004966.1:p.Glu422Ala | |
| XM_006723784.2:c.1265A>C | XP_006723847.1:p.Glu422Ala | |
| XM_011528799.1:c.1265A>C | XP_011527101.1:p.Glu422Ala | |
| NM_004975.3:c.1265A>C | NP_004966.1:p.Glu422Ala | |
| XM_006723784.3:c.1265A>C | XP_006723847.1:p.Glu422Ala | |
| XM_011528799.2:c.1265A>C | XP_011527101.1:p.Glu422Ala | |
| XR_001754659.1:n.156+42271T>G | ||
| NM_004975.4:c.1265A>C MANE Select | NP_004966.1:p.Glu422Ala |