Revel Score:
ENST00000447944 (MANE Select)
0.428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55684996A>G , CM000664.2:g.55684996A>G | GRCh38 |
| NC_000002.11:g.55912131A>G , CM000664.1:g.55912131A>G | GRCh37 |
| NC_000002.10:g.55765635A>G | NCBI36 |
| NG_033012.1:g.13915T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.350T>C MANE Select | ENSP00000400646.2:p.Leu117Pro | |
| ENST00000260604.8:c.350T>C | ENSP00000260604.4:p.Leu117Pro | |
| ENST00000415374.5:c.350T>C | ENSP00000393953.1:p.Leu117Pro | |
| ENST00000429805.1:c.214T>C | ENSP00000411994.1:p.Ter72Arg | |
| ENST00000447944.6:c.350T>C | ENSP00000400646.2:p.Leu117Pro | |
| ENST00000625249.1:c.214T>C | ENSP00000486227.1:p.Ter72Arg | |
| NM_033109.4:c.350T>C | NP_149100.2:p.Leu117Pro | |
| XM_005264629.1:c.110T>C | XP_005264686.1:p.Leu37Pro | |
| XM_011533142.1:c.350T>C | XP_011531444.1:p.Leu117Pro | |
| XM_005264629.2:c.110T>C | XP_005264686.1:p.Leu37Pro | |
| XM_017005172.1:c.110T>C | XP_016860661.1:p.Leu37Pro | |
| XR_001739010.1:n.380T>C | ||
| NM_033109.5:c.350T>C MANE Select | NP_149100.2:p.Leu117Pro |