Revel Score:
ENST00000447903
0.436
ENST00000272035
0.436
ENST00000440680
0.436
ENST00000328974
0.436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47304A>G , CM000672.2:g.47304A>G | GRCh38 |
| NC_000010.10:g.93244A>G , CM000672.1:g.93244A>G | GRCh37 |
| NC_000010.9:g.83244A>G | NCBI36 |
| NG_046777.1:g.34152T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568584.6:c.1088T>C MANE Select | ENSP00000456206.2:p.Met363Thr | |
| ENST00000561967.1:c.*751T>C | ENSP00000454878.1:n.*751T>C | |
| ENST00000564130.2:c.986T>C | ENSP00000457610.1:p.Met329Thr | |
| ENST00000568584.5:c.1088T>C | ENSP00000456206.1:p.Met363Thr | |
| ENST00000568866.5:c.977T>C | ENSP00000457062.1:p.Met326Thr | |
| NM_177987.2:c.1088T>C | NP_817124.1:p.Met363Thr | |
| XM_011519458.1:c.872T>C | XP_011517760.1:p.Met291Thr | |
| XM_011519459.1:c.872T>C | XP_011517761.1:p.Met291Thr | |
| XM_011519460.1:c.629T>C | XP_011517762.1:p.Met210Thr | |
| XM_011519459.3:c.872T>C | XP_011517761.1:p.Met291Thr | |
| XM_011519460.2:c.629T>C | XP_011517762.1:p.Met210Thr | |
| XM_017016192.2:c.752T>C | XP_016871681.1:p.Met251Thr | |
| XM_017016193.2:c.752T>C | XP_016871682.1:p.Met251Thr | |
| NM_177987.3:c.1088T>C MANE Select | NP_817124.1:p.Met363Thr | |
| NM_001389618.1:c.872T>C | NP_001376547.1:p.Met291Thr | |
| NM_001389619.1:c.872T>C | NP_001376548.1:p.Met291Thr |