Revel Score:
ENST00000263774 (MANE Select)
0.318
ENST00000529276
0.318
ENST00000528192
0.318
ENST00000530295
0.318
ENST00000534208
0.318
ENST00000534716
0.318
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000297 (NFE)
Exomes Max Group AF
0.00000316 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47579093T>G , CM000673.2:g.47579093T>G | GRCh38 |
| NC_000011.9:g.47600645T>G , CM000673.1:g.47600645T>G | GRCh37 |
| NC_000011.8:g.47557221T>G | NCBI36 |
| NG_011946.1:g.5084T>G | |
| NG_011946.2:g.5084T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.2T>G MANE Select | ENSP00000263774.4:p.Met1Arg | |
| ENST00000263774.8:c.2T>G | ENSP00000263774.4:p.Met1Arg | |
| ENST00000528192.5:c.2T>G | ENSP00000432099.1:p.Met1Arg | |
| ENST00000529276.1:c.2T>G | ENSP00000433753.1:p.Met1Arg | |
| ENST00000530295.5:c.2T>G | ENSP00000431588.1:p.Met1Arg | |
| ENST00000533105.1:n.9T>G | ||
| ENST00000533507.5:n.816-1432T>G | ||
| ENST00000534208.5:c.2T>G | ENSP00000433405.1:p.Met1Arg | |
| ENST00000534716.2:c.2T>G | ENSP00000434970.2:p.Met1Arg | |
| NM_004551.2:c.2T>G | NP_004542.1:p.Met1Arg | |
| NM_004551.3:c.2T>G MANE Select | NP_004542.1:p.Met1Arg |