Revel Score:
ENST00000248553 (MANE Select)
0.282
ENST00000432276
0.282
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76304007C>G , CM000669.2:g.76304007C>G | GRCh38 |
| NC_000007.13:g.75933324C>G , CM000669.1:g.75933324C>G | GRCh37 |
| NC_000007.12:g.75771260C>G | NCBI36 |
| NG_008995.1:g.6450C>G , LRG_248:g.6450C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.452C>G MANE Select | ENSP00000248553.6:p.Thr151Ser | |
| ENST00000674547.1:c.*43C>G | ENSP00000502461.1:n.*43C>G | |
| ENST00000674638.1:c.447C>G | ENSP00000502651.1:p.His149Gln | |
| ENST00000674650.1:c.388C>G | ENSP00000501628.1:p.Pro130Ala | |
| ENST00000674965.1:c.*108C>G | ENSP00000501765.1:n.*108C>G | |
| ENST00000675134.1:c.431C>G | ENSP00000501831.1:p.Thr144Ser | |
| ENST00000675226.1:c.451C>G | ENSP00000502510.1:p.Pro151Ala | |
| ENST00000675417.1:n.803C>G | ||
| ENST00000675538.1:c.487C>G | ENSP00000502495.1:p.Pro163Ala | |
| ENST00000675906.1:c.*37C>G | ENSP00000502714.1:n.*37C>G | |
| ENST00000676231.1:c.482C>G | ENSP00000502249.1:p.Thr161Ser | |
| ENST00000248553.6:c.452C>G | ENSP00000248553.6:p.Thr151Ser | |
| ENST00000429938.1:c.-53C>G | ENSP00000405285.1:n.-53C>G | |
| ENST00000447574.1:c.*616C>G | ENSP00000414357.1:n.*616C>G | |
| NM_001540.3:c.452C>G , LRG_248t1:c.452C>G | NP_001531.1:p.Thr151Ser | |
| NM_001540.4:c.452C>G | NP_001531.1:p.Thr151Ser | |
| NM_001540.5:c.452C>G MANE Select | NP_001531.1:p.Thr151Ser |