Revel Score:
ENST00000295754 (MANE Select)
0.914
ENST00000359013
0.914
ENST00000439925
0.914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691486G>C , CM000665.2:g.30691486G>C | GRCh38 |
| NC_000003.11:g.30732978G>C , CM000665.1:g.30732978G>C | GRCh37 |
| NC_000003.10:g.30707982G>C | NCBI36 |
| NG_007490.1:g.89985G>C , LRG_779:g.89985G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1591G>C MANE Select | ENSP00000295754.5:p.Ala531Pro | |
| ENST00000672050.1:n.475G>C | ||
| ENST00000672866.1:n.3187G>C | ||
| ENST00000673203.1:n.469G>C | ||
| ENST00000295754.9:c.1591G>C | ENSP00000295754.5:p.Ala531Pro | |
| ENST00000359013.4:c.1666G>C | ENSP00000351905.4:p.Ala556Pro | |
| NM_001024847.2:c.1666G>C , LRG_779t1:c.1666G>C | NP_001020018.1:p.Ala556Pro | |
| NM_003242.5:c.1591G>C | NP_003233.4:p.Ala531Pro | |
| XM_011534043.1:c.1618G>C | XP_011532345.1:p.Ala540Pro | |
| XM_011534044.1:c.1543G>C | XP_011532346.1:p.Ala515Pro | |
| XM_011534045.1:c.1486G>C | XP_011532347.1:p.Ala496Pro | |
| XM_011534043.2:c.1618G>C | XP_011532345.1:p.Ala540Pro | |
| XM_011534045.3:c.1486G>C | XP_011532347.1:p.Ala496Pro | |
| XM_017007106.1:c.1486G>C | XP_016862595.1:p.Ala496Pro | |
| NM_003242.6:c.1591G>C MANE Select | NP_003233.4:p.Ala531Pro |