Revel Score:
ENST00000522966
0.579
ENST00000425340 (MANE Select)
0.579
ENST00000391876
0.579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703572G>C , CM000681.2:g.48703572G>C | GRCh38 |
| NC_000019.9:g.49206829G>C , CM000681.1:g.49206829G>C | GRCh37 |
| NC_000019.8:g.53898641G>C | NCBI36 |
| NG_007511.1:g.12602G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.616G>C MANE Select | ENSP00000387498.2:p.Val206Leu | |
| ENST00000522966.2:c.616G>C | ENSP00000430227.2:p.Val206Leu | |
| ENST00000391876.5:c.616G>C | ENSP00000375748.4:p.Val206Leu | |
| ENST00000425340.2:c.616G>C | ENSP00000387498.2:p.Val206Leu | |
| ENST00000522966.1:c.616G>C | ENSP00000430227.1:p.Val206Leu | |
| NM_000511.5:c.616G>C | NP_000502.4:p.Val206Leu | |
| NM_001097638.2:c.616G>C | NP_001091107.1:p.Val206Leu | |
| NR_131188.1:n.277C>G | ||
| NM_000511.6:c.616G>C MANE Select | NP_000502.4:p.Val206Leu | |
| NM_001097638.3:c.616G>C | NP_001091107.1:p.Val206Leu |