Revel Score:
ENST00000297578 (MANE Select)
0.746
ENST00000424899
0.746
ENST00000543107
0.746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103403291C>G , CM000670.2:g.103403291C>G | GRCh38 |
| NC_000008.10:g.104415519C>G , CM000670.1:g.104415519C>G | GRCh37 |
| NC_000008.9:g.104484695C>G | NCBI36 |
| NG_047200.1:g.17045G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707124.1:c.494G>C | ENSP00000516752.1:p.Trp165Ser | |
| ENST00000297578.9:c.425G>C MANE Select | ENSP00000297578.4:p.Trp142Ser | |
| ENST00000649416.1:c.272G>C | ENSP00000496817.1:p.Trp91Ser | |
| ENST00000297578.8:c.425G>C | ENSP00000297578.4:p.Trp142Ser | |
| ENST00000521645.5:c.392-1237G>C | ENSP00000430989.1:n.392-1237G>C | |
| ENST00000523256.6:c.306-1237G>C | ENSP00000427737.1:n.306-1237G>C | |
| ENST00000523866.1:c.339G>C | ENSP00000430371.1:p.Met113Ile | |
| NM_030780.4:c.425G>C | NP_110407.2:p.Trp142Ser | |
| NR_102337.1:n.737G>C | ||
| NR_102338.1:n.932G>C | ||
| NM_030780.5:c.425G>C MANE Select | NP_110407.2:p.Trp142Ser | |
| NR_102337.2:n.509G>C | ||
| NR_102338.2:n.704G>C |