Revel Score:
ENST00000441879
0.973
ENST00000419333
0.973
ENST00000292823
0.973
ENST00000416798
0.973
ENST00000431016 (MANE Select)
0.973
ENST00000411591
0.973
ENST00000433733
0.973
ENST00000430755
0.973
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196247405G>C , CM000665.2:g.196247405G>C | GRCh38 |
| NC_000003.11:g.195974276G>C , CM000665.1:g.195974276G>C | GRCh37 |
| NC_000003.10:g.197458673G>C | NCBI36 |
| NG_042817.1:g.45348C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.448C>G MANE Select | ENSP00000394617.1:p.Pro150Ala | |
| ENST00000292823.6:c.448C>G | ENSP00000292823.2:p.Pro150Ala | |
| ENST00000411591.5:c.448C>G | ENSP00000400430.1:p.Pro150Ala | |
| ENST00000419333.5:c.448C>G | ENSP00000390968.1:p.Pro150Ala | |
| ENST00000430755.5:c.250C>G | ENSP00000402283.1:p.Pro84Ala | |
| ENST00000431016.5:c.448C>G | ENSP00000394617.1:p.Pro150Ala | |
| ENST00000433733.5:c.67C>G | ENSP00000390458.1:p.Pro23Ala | |
| ENST00000441879.5:c.448C>G | ENSP00000392397.1:p.Pro150Ala | |
| ENST00000444822.5:c.*168C>G | ENSP00000397888.1:n.*168C>G | |
| ENST00000460677.5:n.1284C>G | ||
| ENST00000473978.5:n.1289C>G | ||
| ENST00000488235.1:n.181C>G | ||
| NM_001312673.1:c.448C>G | NP_001299602.1:p.Pro150Ala | |
| NM_005017.2:c.448C>G | NP_005008.2:p.Pro150Ala | |
| NM_005017.3:c.448C>G | NP_005008.2:p.Pro150Ala | |
| NM_001312673.2:c.448C>G MANE Select | NP_001299602.1:p.Pro150Ala | |
| NM_005017.4:c.448C>G | NP_005008.2:p.Pro150Ala |