Revel Score:
ENST00000553106 (MANE Select)
0.899
ENST00000307000
0.899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851698G>T , CM000674.2:g.102851698G>T | GRCh38 |
| NC_000012.11:g.103245476G>T , CM000674.1:g.103245476G>T | GRCh37 |
| NC_000012.10:g.101769606G>T | NCBI36 |
| NG_008690.1:g.70905C>A | |
| NG_008690.2:g.111713C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.901C>A MANE Select | ENSP00000448059.1:p.Gln301Lys | |
| ENST00000307000.7:c.886C>A | ENSP00000303500.2:p.Gln296Lys | |
| ENST00000549247.6:n.660C>A | ||
| ENST00000551114.2:n.563C>A | ||
| ENST00000553106.5:c.901C>A | ENSP00000448059.1:p.Gln301Lys | |
| ENST00000635477.1:c.62C>A | ||
| NM_000277.1:c.901C>A | NP_000268.1:p.Gln301Lys | |
| XM_011538422.1:c.901C>A | XP_011536724.1:p.Gln301Lys | |
| NM_000277.2:c.901C>A | NP_000268.1:p.Gln301Lys | |
| NM_001354304.1:c.901C>A | NP_001341233.1:p.Gln301Lys | |
| NM_000277.3:c.901C>A MANE Select | NP_000268.1:p.Gln301Lys | |
| NM_001354304.2:c.901C>A | NP_001341233.1:p.Gln301Lys |