Revel Score:
ENST00000324071 (MANE Select)
0.086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41007059C>G , CM000681.2:g.41007059C>G | GRCh38 |
| NC_000019.9:g.41512964C>G , CM000681.1:g.41512964C>G | GRCh37 |
| NC_000019.8:g.46204804C>G | NCBI36 |
| NG_007929.1:g.20761C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.639C>G MANE Select | ENSP00000324648.2:p.Phe213Leu | |
| ENST00000598834.2:c.541C>G | ||
| ENST00000324071.8:c.639C>G | ENSP00000324648.2:p.Phe213Leu | |
| ENST00000593831.1:c.256+2613C>G | ENSP00000470582.1:n.256+2613C>G | |
| ENST00000594187.1:n.223C>G | ||
| ENST00000598834.1:n.541C>G | ||
| NM_000767.4:c.639C>G | NP_000758.1:p.Phe213Leu | |
| XM_005258569.3:c.639C>G | XP_005258626.1:p.Phe213Leu | |
| XM_006723050.2:c.639C>G | XP_006723113.1:p.Phe213Leu | |
| XM_011526546.1:c.639C>G | XP_011524848.1:p.Phe213Leu | |
| XM_011526547.1:c.639C>G | XP_011524849.1:p.Phe213Leu | |
| XM_011526548.1:c.484+2613C>G | XP_011524850.1:n.484+2613C>G | |
| XM_011526549.1:c.48C>G | XP_011524851.1:p.Phe16Leu | |
| XM_011526550.1:c.364+2613C>G | XP_011524852.1:n.364+2613C>G | |
| NM_000767.5:c.639C>G MANE Select | NP_000758.1:p.Phe213Leu |