Revel Score:
ENST00000254108 (MANE Select)
0.883
ENST00000394533
0.883
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001433 (SAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001591 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31185175A>G , CM000678.2:g.31185175A>G | GRCh38 |
| NC_000016.9:g.31196496A>G , CM000678.1:g.31196496A>G | GRCh37 |
| NC_000016.8:g.31103997A>G | NCBI36 |
| NG_012889.2:g.10044A>G , LRG_655:g.10044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.760A>G MANE Select | ENSP00000254108.8:p.Met254Val | |
| ENST00000254108.11:c.760A>G | ENSP00000254108.7:p.Met254Val | |
| ENST00000380244.7:c.757A>G | ENSP00000369594.3:p.Met253Val | |
| ENST00000487509.6:n.825A>G | ||
| ENST00000566605.5:c.760A>G | ENSP00000455073.1:p.Met254Val | |
| ENST00000568685.1:c.760A>G | ENSP00000455282.1:p.Met254Val | |
| ENST00000570090.1:n.96A>G | ||
| NM_001170634.1:c.757A>G | NP_001164105.1:p.Met253Val | |
| NM_001170937.1:c.748A>G | NP_001164408.1:p.Met250Val | |
| NM_004960.3:c.760A>G , LRG_655t1:c.760A>G | NP_004951.1:p.Met254Val | |
| NR_028388.2:n.865A>G | ||
| XM_005255233.3:c.180A>G | XP_005255290.1:p.Ala60= | |
| XM_011545781.1:c.754A>G | XP_011544083.1:p.Met252Val | |
| XM_011545782.1:c.180A>G | XP_011544084.1:p.Ala60= | |
| XM_005255233.5:c.180A>G | XP_005255290.1:p.Ala60= | |
| XM_011545782.2:c.180A>G | XP_011544084.1:p.Ala60= | |
| XM_024450221.1:c.751A>G | XP_024305989.1:p.Met251Val | |
| NM_004960.4:c.760A>G MANE Select | NP_004951.1:p.Met254Val |