Revel Score:
ENST00000447944 (MANE Select)
0.477
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55654942T>G , CM000664.2:g.55654942T>G | GRCh38 |
| NC_000002.11:g.55882077T>G , CM000664.1:g.55882077T>G | GRCh37 |
| NC_000002.10:g.55735581T>G | NCBI36 |
| NG_033012.1:g.43969A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1453A>C MANE Select | ENSP00000400646.2:p.Met485Leu | |
| ENST00000260604.8:c.*1008A>C | ENSP00000260604.4:n.*1008A>C | |
| ENST00000415374.5:c.1453A>C | ENSP00000393953.1:p.Met485Leu | |
| ENST00000415489.1:c.460A>C | ||
| ENST00000447944.6:c.1453A>C | ENSP00000400646.2:p.Met485Leu | |
| NM_033109.4:c.1453A>C | NP_149100.2:p.Met485Leu | |
| XM_005264629.1:c.1213A>C | XP_005264686.1:p.Met405Leu | |
| XM_011533142.1:c.1453A>C | XP_011531444.1:p.Met485Leu | |
| XM_005264629.2:c.1213A>C | XP_005264686.1:p.Met405Leu | |
| XM_017005172.1:c.1213A>C | XP_016860661.1:p.Met405Leu | |
| XR_001739010.1:n.1483A>C | ||
| NM_033109.5:c.1453A>C MANE Select | NP_149100.2:p.Met485Leu |