Revel Score:
ENST00000370629 (MANE Select)
0.917
ENST00000370628
0.917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659048G>C , CM000685.2:g.136659048G>C | GRCh38 |
| NC_000023.10:g.135741207G>C , CM000685.1:g.135741207G>C | GRCh37 |
| NC_000023.9:g.135568873G>C | NCBI36 |
| NG_007280.1:g.15872G>C , LRG_141:g.15872G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*37G>C | ENSP00000512122.1:n.*37G>C | |
| ENST00000695725.1:c.166G>C | ENSP00000512123.1:p.Gly56Arg | |
| ENST00000695726.1:n.2387G>C | ||
| ENST00000695729.1:n.3222G>C | ||
| ENST00000370629.7:c.419G>C MANE Select | ENSP00000359663.2:p.Trp140Ser | |
| ENST00000370628.2:c.356G>C | ENSP00000359662.2:p.Trp119Ser | |
| ENST00000370629.6:c.419G>C | ENSP00000359663.2:p.Trp140Ser | |
| NM_000074.2:c.419G>C , LRG_141t1:c.419G>C | NP_000065.1:p.Trp140Ser | |
| NM_000074.3:c.419G>C MANE Select | NP_000065.1:p.Trp140Ser |