Revel Score:
ENST00000295754 (MANE Select)
0.728
ENST00000359013
0.728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30650316C>G , CM000665.2:g.30650316C>G | GRCh38 |
| NC_000003.11:g.30691808C>G , CM000665.1:g.30691808C>G | GRCh37 |
| NC_000003.10:g.30666812C>G | NCBI36 |
| NG_007490.1:g.48815C>G , LRG_779:g.48815C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.310C>G MANE Select | ENSP00000295754.5:p.Pro104Ala | |
| ENST00000672866.1:n.1906C>G | ||
| ENST00000673250.1:n.434C>G | ||
| ENST00000295754.9:c.310C>G | ENSP00000295754.5:p.Pro104Ala | |
| ENST00000359013.4:c.385C>G | ENSP00000351905.4:p.Pro129Ala | |
| NM_001024847.2:c.385C>G , LRG_779t1:c.385C>G | NP_001020018.1:p.Pro129Ala | |
| NM_003242.5:c.310C>G | NP_003233.4:p.Pro104Ala | |
| XM_011534043.1:c.337C>G | XP_011532345.1:p.Pro113Ala | |
| XM_011534044.1:c.262C>G | XP_011532346.1:p.Pro88Ala | |
| XM_011534045.1:c.205C>G | XP_011532347.1:p.Pro69Ala | |
| XM_011534043.2:c.337C>G | XP_011532345.1:p.Pro113Ala | |
| XM_011534045.3:c.205C>G | XP_011532347.1:p.Pro69Ala | |
| XM_017007106.1:c.205C>G | XP_016862595.1:p.Pro69Ala | |
| NM_003242.6:c.310C>G MANE Select | NP_003233.4:p.Pro104Ala |