Revel Score:
ENST00000344327 (MANE Select)
0.904
ENST00000532133
0.904
ENST00000348423
0.904
ENST00000360497
0.904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453062C>T , CM000673.2:g.101453062C>T | GRCh38 |
| NC_000011.9:g.101323793C>T , CM000673.1:g.101323793C>T | GRCh37 |
| NC_000011.8:g.100829003C>T | NCBI36 |
| NG_011476.1:g.135867G>A | |
| NG_011476.2:g.135867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2689G>A MANE Select | ENSP00000340913.3:p.Glu897Lys | |
| ENST00000344327.7:c.2689G>A | ENSP00000340913.3:p.Glu897Lys | |
| ENST00000348423.8:c.2341G>A | ENSP00000343672.4:p.Glu781Lys | |
| ENST00000360497.4:c.2524G>A | ENSP00000353687.4:p.Glu842Lys | |
| ENST00000532133.5:c.2455G>A | ENSP00000435574.1:p.Glu819Lys | |
| NM_004621.5:c.2689G>A | NP_004612.2:p.Glu897Lys | |
| XM_006718898.2:c.2614G>A | XP_006718961.1:p.Glu872Lys | |
| XM_011542968.1:c.2524G>A | XP_011541270.1:p.Glu842Lys | |
| XM_011542968.3:c.2524G>A | XP_011541270.1:p.Glu842Lys | |
| XM_017018221.2:c.2341G>A | XP_016873710.1:p.Glu781Lys | |
| XR_001747948.2:n.3046G>A | ||
| NM_004621.6:c.2689G>A MANE Select | NP_004612.2:p.Glu897Lys |