Revel Score:
ENST00000540732
0.952
ENST00000269980 (MANE Select)
0.952
ENST00000457836
0.952
ENST00000544905
0.952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424582T>C , CM000681.2:g.41424582T>C | GRCh38 |
| NC_000019.9:g.41930487T>C , CM000681.1:g.41930487T>C | GRCh37 |
| NC_000019.8:g.46622327T>C | NCBI36 |
| NG_013004.1:g.31794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1312T>C MANE Select | ENSP00000269980.2:p.Tyr438His | |
| ENST00000269980.6:c.1312T>C | ENSP00000269980.2:p.Tyr438His | |
| ENST00000457836.6:c.1321T>C | ENSP00000416000.2:p.Tyr441His | |
| ENST00000540732.3:c.1414T>C | ENSP00000443246.1:p.Tyr472His | |
| ENST00000544905.1:c.142T>C | ||
| ENST00000595085.5:c.922+1885T>C | ENSP00000471150.2:n.922+1885T>C | |
| NM_000709.3:c.1312T>C | NP_000700.1:p.Tyr438His | |
| NM_001164783.1:c.1309T>C | NP_001158255.1:p.Tyr437His | |
| NM_000709.4:c.1312T>C MANE Select | NP_000700.1:p.Tyr438His | |
| NM_001164783.2:c.1309T>C | NP_001158255.1:p.Tyr437His |