Revel Score:
ENST00000389658 (MANE Select)
0.188
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.6955368G>C , CM000680.2:g.6955368G>C | GRCh38 |
| NC_000018.9:g.6955367G>C , CM000680.1:g.6955367G>C | GRCh37 |
| NC_000018.8:g.6945367G>C | NCBI36 |
| NG_034251.1:g.167447C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.8192C>G MANE Select | ENSP00000374309.3:p.Ser2731Trp | |
| ENST00000389658.3:c.8192C>G | ENSP00000374309.3:p.Ser2731Trp | |
| ENST00000488064.5:n.1599C>G | ||
| ENST00000488089.1:n.2939C>G | ||
| ENST00000492048.5:n.1080C>G | ||
| ENST00000579014.5:n.9207C>G | ||
| NM_005559.3:c.8192C>G | NP_005550.2:p.Ser2731Trp | |
| NR_126040.1:n.244G>C | ||
| XM_011525655.1:c.8222C>G | XP_011523957.1:p.Ser2741Trp | |
| XM_011525656.1:c.6650C>G | XP_011523958.1:p.Ser2217Trp | |
| XM_011525655.2:c.8222C>G | XP_011523957.1:p.Ser2741Trp | |
| XM_011525656.2:c.6650C>G | XP_011523958.1:p.Ser2217Trp | |
| NM_005559.4:c.8192C>G MANE Select | NP_005550.2:p.Ser2731Trp |