Revel Score:
ENST00000262027 (MANE Select)
0.509
ENST00000315473
0.509
ENST00000552371
0.225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57500339C>G , CM000674.2:g.57500339C>G | GRCh38 |
| NC_000012.11:g.57894122C>G , CM000674.1:g.57894122C>G | GRCh37 |
| NC_000012.10:g.56180389C>G | NCBI36 |
| NG_034077.1:g.17387C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1110C>G MANE Select | ENSP00000262027.5:p.Phe370Leu | |
| ENST00000262027.9:c.1110C>G | ENSP00000262027.5:p.Phe370Leu | |
| ENST00000447721.6:n.752C>G | ||
| ENST00000537638.6:c.1110C>G | ENSP00000446168.2:p.Phe370Leu | |
| ENST00000545888.6:c.*611C>G | ENSP00000439307.2:n.*611C>G | |
| ENST00000549827.1:n.226C>G | ||
| ENST00000551892.1:c.*475C>G | ENSP00000450018.1:n.*475C>G | |
| ENST00000552371.1:c.608C>G | ||
| ENST00000628866.2:c.*611C>G | ENSP00000486738.1:n.*611C>G | |
| NM_004990.3:c.1110C>G | NP_004981.2:p.Phe370Leu | |
| XM_006719398.2:c.408C>G | XP_006719461.1:p.Phe136Leu | |
| XM_011538353.1:c.1110C>G | XP_011536655.1:p.Phe370Leu | |
| XM_006719398.4:c.408C>G | XP_006719461.1:p.Phe136Leu | |
| XR_001748704.2:n.1133C>G | ||
| XR_002957327.1:n.1057C>G | ||
| NM_004990.4:c.1110C>G MANE Select | NP_004981.2:p.Phe370Leu |