Revel Score:
ENST00000295754 (MANE Select)
0.580
ENST00000359013
0.580
ENST00000439925
0.580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691435T>C , CM000665.2:g.30691435T>C | GRCh38 |
| NC_000003.11:g.30732927T>C , CM000665.1:g.30732927T>C | GRCh37 |
| NC_000003.10:g.30707931T>C | NCBI36 |
| NG_007490.1:g.89934T>C , LRG_779:g.89934T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1540T>C MANE Select | ENSP00000295754.5:p.Cys514Arg | |
| ENST00000672050.1:n.424T>C | ||
| ENST00000672866.1:n.3136T>C | ||
| ENST00000673203.1:n.418T>C | ||
| ENST00000295754.9:c.1540T>C | ENSP00000295754.5:p.Cys514Arg | |
| ENST00000359013.4:c.1615T>C | ENSP00000351905.4:p.Cys539Arg | |
| NM_001024847.2:c.1615T>C , LRG_779t1:c.1615T>C | NP_001020018.1:p.Cys539Arg | |
| NM_003242.5:c.1540T>C | NP_003233.4:p.Cys514Arg | |
| XM_011534043.1:c.1567T>C | XP_011532345.1:p.Cys523Arg | |
| XM_011534044.1:c.1492T>C | XP_011532346.1:p.Cys498Arg | |
| XM_011534045.1:c.1435T>C | XP_011532347.1:p.Cys479Arg | |
| XM_011534043.2:c.1567T>C | XP_011532345.1:p.Cys523Arg | |
| XM_011534045.3:c.1435T>C | XP_011532347.1:p.Cys479Arg | |
| XM_017007106.1:c.1435T>C | XP_016862595.1:p.Cys479Arg | |
| NM_003242.6:c.1540T>C MANE Select | NP_003233.4:p.Cys514Arg |