Revel Score:
ENST00000442544 (MANE Select)
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53467923A>G , CM000680.2:g.53467923A>G | GRCh38 |
| NC_000018.9:g.50994293A>G , CM000680.1:g.50994293A>G | GRCh37 |
| NC_000018.8:g.49248291A>G | NCBI36 |
| NG_013341.1:g.1132752A>G | |
| NG_013341.2:g.1132752A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.3649A>G MANE Select | ENSP00000389140.2:p.Met1217Val | |
| ENST00000412726.5:c.3580A>G | ENSP00000397322.2:p.Met1194Val | |
| ENST00000442544.6:c.3649A>G | ENSP00000389140.2:p.Met1217Val | |
| ENST00000581580.5:c.2554A>G | ENSP00000464582.1:p.Met852Val | |
| NM_005215.3:c.3649A>G | NP_005206.2:p.Met1217Val | |
| XM_011525843.1:c.3649A>G | XP_011524145.1:p.Met1217Val | |
| XM_011525844.1:c.2614A>G | XP_011524146.1:p.Met872Val | |
| XM_011525844.2:c.2614A>G | XP_011524146.1:p.Met872Val | |
| XM_017025568.1:c.3649A>G | XP_016881057.1:p.Met1217Val | |
| XM_017025569.1:c.3589A>G | XP_016881058.1:p.Met1197Val | |
| XM_017025570.1:c.2614A>G | XP_016881059.1:p.Met872Val | |
| NM_005215.4:c.3649A>G MANE Select | NP_005206.2:p.Met1217Val |