Revel Score:
ENST00000268124 (MANE Select)
0.952
ENST00000442287
0.952
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317531A>C , CM000677.2:g.89317531A>C | GRCh38 |
| NC_000015.9:g.89860762A>C , CM000677.1:g.89860762A>C | GRCh37 |
| NC_000015.8:g.87661766A>C | NCBI36 |
| NG_008218.1:g.22265T>G | |
| NG_011736.1:g.78569A>C , LRG_500:g.78569A>C | |
| NG_008218.2:g.22265T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3488T>G | ENSP00000516154.1:p.Met1163Arg | |
| ENST00000268124.11:c.3488T>G MANE Select | ENSP00000268124.5:p.Met1163Arg | |
| ENST00000530292.3:c.3188T>G | ENSP00000432885.2:n.3188T>G | |
| ENST00000635986.2:c.*558T>G | ENSP00000490653.2:n.*558T>G | |
| ENST00000636774.1:c.*2092T>G | ENSP00000489799.1:n.*2092T>G | |
| ENST00000637042.1:n.72-60T>G | ||
| ENST00000637238.1:c.2396T>G | ENSP00000490756.1:n.2396T>G | |
| ENST00000637264.1:c.2555-55T>G | ||
| ENST00000666746.1:c.3065T>G | ||
| ENST00000672071.1:n.4690T>G | ||
| ENST00000672695.1:n.1267T>G | ||
| ENST00000672923.2:n.3488T>G | ||
| ENST00000268124.9:c.3488T>G | ENSP00000268124.5:p.Met1163Arg | |
| ENST00000442287.6:c.3488T>G | ENSP00000399851.2:p.Met1163Arg | |
| ENST00000526671.1:n.298T>G | ||
| ENST00000530292.2:c.671T>G | ENSP00000432885.1:n.671T>G | |
| ENST00000631044.2:c.*2912T>G | ENSP00000486730.1:n.*2912T>G | |
| NM_001126131.1:c.3488T>G | NP_001119603.1:p.Met1163Arg | |
| NM_002693.2:c.3488T>G | NP_002684.1:p.Met1163Arg | |
| NM_001126131.2:c.3488T>G | NP_001119603.1:p.Met1163Arg | |
| NM_002693.3:c.3488T>G MANE Select | NP_002684.1:p.Met1163Arg |