Revel Score:
ENST00000342988 (MANE Select)
0.932
ENST00000398417
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078285G>C , CM000680.2:g.51078285G>C | GRCh38 |
| NC_000018.9:g.48604655G>C , CM000680.1:g.48604655G>C | GRCh37 |
| NC_000018.8:g.46858653G>C | NCBI36 |
| NG_013013.2:g.115246G>C , LRG_318:g.115246G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1477G>C | ENSP00000465878.2:p.Asp493His | |
| ENST00000589076.6:c.1477G>C | ENSP00000466934.2:p.Asp493His | |
| ENST00000589941.2:c.1477G>C | ENSP00000465874.2:p.Asp493His | |
| ENST00000590061.2:c.1477G>C | ENSP00000464772.2:p.Asp493His | |
| ENST00000593223.2:c.*1474G>C | ENSP00000466118.2:n.*1474G>C | |
| ENST00000611848.2:c.*129G>C | ENSP00000478613.2:n.*129G>C | |
| ENST00000684953.1:n.3492G>C | ||
| ENST00000685090.1:n.3407G>C | ||
| ENST00000685232.1:n.1698G>C | ||
| ENST00000688574.1:n.1585G>C | ||
| ENST00000691124.1:n.4438G>C | ||
| ENST00000342988.8:c.1477G>C MANE Select | ENSP00000341551.3:p.Asp493His | |
| ENST00000342988.7:c.1477G>C | ENSP00000341551.3:p.Asp493His | |
| ENST00000398417.6:c.1477G>C | ENSP00000381452.1:p.Asp493His | |
| ENST00000586253.1:n.199G>C | ||
| ENST00000588745.5:c.1189G>C | ENSP00000464901.1:p.Asp397His | |
| ENST00000591126.5:n.3478G>C | ||
| ENST00000592186.5:c.1124G>C | ENSP00000468611.1:n.1124G>C | |
| ENST00000611848.1:c.790G>C | ||
| NM_005359.5:c.1477G>C , LRG_318t1:c.1477G>C | NP_005350.1:p.Asp493His | |
| NM_005359.6:c.1477G>C MANE Select | NP_005350.1:p.Asp493His |