Revel Score:
ENST00000447903
0.344
ENST00000272035
0.344
ENST00000440680
0.344
ENST00000328974
0.344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47492C>T , CM000672.2:g.47492C>T | GRCh38 |
| NC_000010.10:g.93432C>T , CM000672.1:g.93432C>T | GRCh37 |
| NC_000010.9:g.83432C>T | NCBI36 |
| NG_046777.1:g.33964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568584.6:c.900G>A MANE Select | ENSP00000456206.2:p.Met300Ile | |
| ENST00000561967.1:c.*563G>A | ENSP00000454878.1:n.*563G>A | |
| ENST00000564130.2:c.798G>A | ENSP00000457610.1:p.Met266Ile | |
| ENST00000568584.5:c.900G>A | ENSP00000456206.1:p.Met300Ile | |
| ENST00000568866.5:c.789G>A | ENSP00000457062.1:p.Met263Ile | |
| NM_177987.2:c.900G>A | NP_817124.1:p.Met300Ile | |
| XM_011519458.1:c.684G>A | XP_011517760.1:p.Met228Ile | |
| XM_011519459.1:c.684G>A | XP_011517761.1:p.Met228Ile | |
| XM_011519460.1:c.441G>A | XP_011517762.1:p.Met147Ile | |
| XM_011519459.3:c.684G>A | XP_011517761.1:p.Met228Ile | |
| XM_011519460.2:c.441G>A | XP_011517762.1:p.Met147Ile | |
| XM_017016192.2:c.564G>A | XP_016871681.1:p.Met188Ile | |
| XM_017016193.2:c.564G>A | XP_016871682.1:p.Met188Ile | |
| NM_177987.3:c.900G>A MANE Select | NP_817124.1:p.Met300Ile | |
| NM_001389618.1:c.684G>A | NP_001376547.1:p.Met228Ile | |
| NM_001389619.1:c.684G>A | NP_001376548.1:p.Met228Ile |