Revel Score:
ENST00000268124 (MANE Select)
0.769
ENST00000442287
0.769
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024169 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00025291 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327004T>G , CM000677.2:g.89327004T>G | GRCh38 |
| NC_000015.9:g.89870235T>G , CM000677.1:g.89870235T>G | GRCh37 |
| NC_000015.8:g.87671239T>G | NCBI36 |
| NG_008218.1:g.12792A>C | |
| NG_008218.2:g.12792A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1493A>C | ENSP00000516154.1:p.Lys498Thr | |
| ENST00000268124.11:c.1493A>C MANE Select | ENSP00000268124.5:p.Lys498Thr | |
| ENST00000530292.3:c.1094A>C | ENSP00000432885.2:p.Lys365Thr | |
| ENST00000635986.2:c.1493A>C | ENSP00000490653.2:p.Lys498Thr | |
| ENST00000636774.1:c.*60A>C | ENSP00000489799.1:n.*60A>C | |
| ENST00000637238.1:c.230A>C | ENSP00000490756.1:p.Lys77Thr | |
| ENST00000637264.1:c.565A>C | ||
| ENST00000666746.1:c.1070A>C | ||
| ENST00000672071.1:n.1691A>C | ||
| ENST00000672923.2:n.1596A>C | ||
| ENST00000268124.9:c.1493A>C | ENSP00000268124.5:p.Lys498Thr | |
| ENST00000442287.6:c.1493A>C | ENSP00000399851.2:p.Lys498Thr | |
| ENST00000631044.2:c.*876A>C | ENSP00000486730.1:n.*876A>C | |
| NM_001126131.1:c.1493A>C | NP_001119603.1:p.Lys498Thr | |
| NM_002693.2:c.1493A>C | NP_002684.1:p.Lys498Thr | |
| NM_001126131.2:c.1493A>C | NP_001119603.1:p.Lys498Thr | |
| NM_002693.3:c.1493A>C MANE Select | NP_002684.1:p.Lys498Thr |