Revel Score:
ENST00000219240 (MANE Select)
0.528
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72008783A>G , CM000678.2:g.72008783A>G | GRCh38 |
| NC_000016.9:g.72042682A>G , CM000678.1:g.72042682A>G | GRCh37 |
| NC_000016.8:g.70600183A>G | NCBI36 |
| NG_016271.1:g.5040A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.19A>G MANE Select | ENSP00000219240.4:p.Lys7Glu | |
| ENST00000219240.8:c.19A>G | ENSP00000219240.4:p.Lys7Glu | |
| ENST00000571288.6:c.6A>G | ||
| ENST00000572887.5:c.19A>G | ENSP00000461848.1:p.Lys7Glu | |
| ENST00000574309.5:c.15A>G | ||
| NM_001361.4:c.19A>G | NP_001352.2:p.Lys7Glu | |
| XM_017022990.2:c.-410A>G | XP_016878479.1:n.-410A>G | |
| NM_001361.5:c.19A>G MANE Select | NP_001352.2:p.Lys7Glu |