Revel Score:
ENST00000311895 (MANE Select)
0.052
ENST00000389138
0.052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948123A>G , CM000678.2:g.13948123A>G | GRCh38 |
| NC_000016.9:g.14041980A>G , CM000678.1:g.14041980A>G | GRCh37 |
| NC_000016.8:g.13949481A>G | NCBI36 |
| NG_011442.1:g.32967A>G , LRG_463:g.32967A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2665A>G | ENSP00000507912.1:p.Lys889Glu | |
| ENST00000683962.1:c.*2221A>G | ENSP00000506854.1:n.*2221A>G | |
| ENST00000311895.8:c.2527A>G MANE Select | ENSP00000310520.7:p.Lys843Glu | |
| ENST00000311895.7:c.2527A>G | ENSP00000310520.7:p.Lys843Glu | |
| ENST00000389138.7:n.1804A>G | ||
| NM_005236.2:c.2527A>G , LRG_463t1:c.2527A>G | NP_005227.1:p.Lys843Glu | |
| XM_011522424.1:c.2665A>G | XP_011520726.1:p.Lys889Glu | |
| XM_011522425.1:c.1984A>G | XP_011520727.1:p.Lys662Glu | |
| XM_011522426.1:c.1738A>G | XP_011520728.1:p.Lys580Glu | |
| XM_011522427.1:c.1177A>G | XP_011520729.1:p.Lys393Glu | |
| XR_932805.1:n.2686A>G | ||
| XM_011522424.3:c.2665A>G | XP_011520726.1:p.Lys889Glu | |
| XM_017023043.2:c.1738A>G | XP_016878532.1:p.Lys580Glu | |
| NM_005236.3:c.2527A>G MANE Select | NP_005227.1:p.Lys843Glu |