Revel Score:
ENST00000553106 (MANE Select)
0.944
ENST00000307000
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846896G>T , CM000674.2:g.102846896G>T | GRCh38 |
| NC_000012.11:g.103240674G>T , CM000674.1:g.103240674G>T | GRCh37 |
| NC_000012.10:g.101764804G>T | NCBI36 |
| NG_008690.1:g.75707C>A | |
| NG_008690.2:g.116515C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.968C>A MANE Select | ENSP00000448059.1:p.Thr323Lys | |
| ENST00000307000.7:c.953C>A | ENSP00000303500.2:p.Thr318Lys | |
| ENST00000549247.6:n.727C>A | ||
| ENST00000551114.2:n.630C>A | ||
| ENST00000553106.5:c.968C>A | ENSP00000448059.1:p.Thr323Lys | |
| ENST00000635477.1:c.74-2465C>A | ||
| ENST00000635528.1:n.483C>A | ||
| NM_000277.1:c.968C>A | NP_000268.1:p.Thr323Lys | |
| XM_011538422.1:c.913-2465C>A | XP_011536724.1:n.913-2465C>A | |
| NM_000277.2:c.968C>A | NP_000268.1:p.Thr323Lys | |
| NM_001354304.1:c.968C>A | NP_001341233.1:p.Thr323Lys | |
| NM_000277.3:c.968C>A MANE Select | NP_000268.1:p.Thr323Lys | |
| NM_001354304.2:c.968C>A | NP_001341233.1:p.Thr323Lys |