Revel Score:
ENST00000267845 (MANE Select)
0.168
ENST00000543581
0.168
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242590A>C , CM000677.2:g.50242590A>C | GRCh38 |
| NC_000015.9:g.50534787A>C , CM000677.1:g.50534787A>C | GRCh37 |
| NC_000015.8:g.48322079A>C | NCBI36 |
| NG_027487.1:g.28376T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1659T>G MANE Select | ENSP00000267845.3:p.Phe553Leu | |
| ENST00000267845.7:c.1659T>G | ENSP00000267845.3:p.Phe553Leu | |
| ENST00000543581.5:c.1560T>G | ENSP00000440252.1:p.Phe520Leu | |
| ENST00000559816.1:n.1403T>G | ||
| NM_001306146.1:c.1560T>G | NP_001293075.1:p.Phe520Leu | |
| NM_002112.3:c.1659T>G | NP_002103.2:p.Phe553Leu | |
| XM_011521479.1:c.1422T>G | XP_011519781.1:p.Phe474Leu | |
| XM_011521480.1:c.1227T>G | XP_011519782.1:p.Phe409Leu | |
| XM_017022094.1:c.1764T>G | XP_016877583.1:p.Phe588Leu | |
| XM_017022095.1:c.1665T>G | XP_016877584.1:p.Phe555Leu | |
| XM_017022096.1:c.1536T>G | XP_016877585.1:p.Phe512Leu | |
| XM_017022097.1:c.1527T>G | XP_016877586.1:p.Phe509Leu | |
| XM_017022098.1:c.1332T>G | XP_016877587.1:p.Phe444Leu | |
| NM_002112.4:c.1659T>G MANE Select | NP_002103.2:p.Phe553Leu | |
| NM_001306146.2:c.1560T>G | NP_001293075.1:p.Phe520Leu |