Revel Score:
ENST00000503569
0.435
ENST00000226760 (MANE Select)
0.435
ENST00000540337
0.435
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005628 (NFE)
Exomes Max Group AF
0.00005885 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301986A>G , CM000666.2:g.6301986A>G | GRCh38 |
| NC_000004.11:g.6303713A>G , CM000666.1:g.6303713A>G | GRCh37 |
| NC_000004.10:g.6354614A>G | NCBI36 |
| NG_011700.1:g.37137A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2227A>G | ENSP00000507852.1:p.Met743Val | |
| ENST00000683395.1:c.2168A>G | ||
| ENST00000684087.1:c.2191A>G | ENSP00000506978.1:p.Met731Val | |
| ENST00000506362.2:c.1942A>G | ENSP00000424103.2:p.Met648Val | |
| ENST00000673642.1:c.1850A>G | ENSP00000501242.1:n.1850A>G | |
| ENST00000673991.1:c.2227A>G | ENSP00000501033.1:p.Met743Val | |
| ENST00000226760.5:c.2191A>G MANE Select | ENSP00000226760.1:p.Met731Val | |
| ENST00000503569.5:c.2191A>G | ENSP00000423337.1:p.Met731Val | |
| ENST00000507765.1:n.2376A>G | ||
| NM_001145853.1:c.2191A>G | NP_001139325.1:p.Met731Val | |
| NM_006005.3:c.2191A>G MANE Select | NP_005996.2:p.Met731Val | |
| XM_017008586.1:c.2200A>G | XP_016864075.1:p.Met734Val |