Revel Score:
ENST00000532462
0.383
ENST00000544180
0.383
ENST00000216392 (MANE Select)
0.383
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18226846 (AFR)
Genomes Max Group AF
0.18091635 (AFR)
Exomes Max Group AF
0.1815765 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50921064C>T , CM000676.2:g.50921064C>T | GRCh38 |
| NC_000014.8:g.51387782C>T , CM000676.1:g.51387782C>T | GRCh37 |
| NC_000014.7:g.50457532C>T | NCBI36 |
| NG_012796.1:g.28467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.664G>A MANE Select | ENSP00000216392.7:p.Val222Ile | |
| ENST00000216392.7:c.664G>A | ENSP00000216392.7:p.Val222Ile | |
| ENST00000532462.5:c.664G>A | ENSP00000431657.1:p.Val222Ile | |
| ENST00000544180.6:c.562G>A | ENSP00000443787.1:p.Val188Ile | |
| ENST00000553872.1:n.465G>A | ||
| NM_001163940.1:c.562G>A | NP_001157412.1:p.Val188Ile | |
| NM_002863.4:c.664G>A | NP_002854.3:p.Val222Ile | |
| NM_002863.5:c.664G>A MANE Select | NP_002854.3:p.Val222Ile | |
| NM_001163940.2:c.562G>A | NP_001157412.1:p.Val188Ile |