Revel Score:
ENST00000311550 (MANE Select)
0.914
ENST00000541819
0.914
ENST00000299267
0.914
ENST00000400188
0.914
ENST00000545868
0.914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26567671G>T , CM000677.2:g.26567671G>T | GRCh38 |
| NC_000015.9:g.26812818G>T , CM000677.1:g.26812818G>T | GRCh37 |
| NC_000015.8:g.24363911G>T | NCBI36 |
| NG_012836.1:g.211110C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.745C>A | ENSP00000299267.4:p.Gln249Lys | |
| ENST00000311550.10:c.745C>A MANE Select | ENSP00000308725.5:p.Gln249Lys | |
| ENST00000635832.1:n.788C>A | ||
| ENST00000635994.1:c.428C>A | ||
| ENST00000636466.1:c.490C>A | ENSP00000489768.1:p.Gln164Lys | |
| ENST00000638099.1:c.646C>A | ENSP00000490678.1:p.Gln216Lys | |
| ENST00000638149.1:n.94C>A | ||
| ENST00000299267.8:c.745C>A | ENSP00000299267.4:p.Gln249Lys | |
| ENST00000311550.9:c.745C>A | ENSP00000308725.5:p.Gln249Lys | |
| ENST00000400188.7:c.532C>A | ENSP00000383049.3:p.Gln178Lys | |
| ENST00000541819.6:c.913C>A | ENSP00000442408.2:p.Gln305Lys | |
| ENST00000545868.4:c.490C>A | ENSP00000439169.1:p.Gln164Lys | |
| ENST00000554556.5:c.*206C>A | ENSP00000451077.1:n.*206C>A | |
| ENST00000555094.5:n.657C>A | ||
| ENST00000555632.5:c.*577C>A | ENSP00000452041.1:n.*577C>A | |
| ENST00000557765.1:n.416C>A | ||
| ENST00000622697.4:c.490C>A | ENSP00000481004.1:p.Gln164Lys | |
| ENST00000628124.2:c.490C>A | ENSP00000486819.1:p.Gln164Lys | |
| NM_000814.5:c.745C>A | NP_000805.1:p.Gln249Lys | |
| NM_001191320.1:c.490C>A | NP_001178249.1:p.Gln164Lys | |
| NM_001191321.2:c.532C>A | NP_001178250.1:p.Gln178Lys | |
| NM_001278631.1:c.490C>A | NP_001265560.1:p.Gln164Lys | |
| NM_021912.4:c.745C>A | NP_068712.1:p.Gln249Lys | |
| XM_011521428.1:c.568C>A | XP_011519730.1:p.Gln190Lys | |
| XM_011521428.3:c.568C>A | XP_011519730.1:p.Gln190Lys | |
| NM_000814.6:c.745C>A MANE Select | NP_000805.1:p.Gln249Lys | |
| NM_001191321.3:c.532C>A | NP_001178250.1:p.Gln178Lys | |
| NM_021912.5:c.745C>A | NP_068712.1:p.Gln249Lys | |
| NM_001191320.2:c.490C>A | NP_001178249.1:p.Gln164Lys | |
| NM_001278631.2:c.490C>A | NP_001265560.1:p.Gln164Lys |