Revel Score:
ENST00000398606 (MANE Select)
0.224
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586110G>A , CM000673.2:g.67586110G>A | GRCh38 |
| NC_000011.9:g.67353581G>A , CM000673.1:g.67353581G>A | GRCh37 |
| NC_000011.8:g.67110157G>A | NCBI36 |
| NG_012075.1:g.7516G>A , LRG_723:g.7516G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-279G>A | ENSP00000381604.1:n.337-279G>A | |
| ENST00000398606.10:c.343G>A MANE Select | ENSP00000381607.3:p.Gly115Ser | |
| ENST00000646888.1:c.*59G>A | ENSP00000494477.1:n.*59G>A | |
| ENST00000398603.5:c.337-279G>A | ENSP00000381604.1:n.337-279G>A | |
| ENST00000398606.7:c.343G>A | ENSP00000381607.3:p.Gly115Ser | |
| ENST00000467591.1:n.454G>A | ||
| ENST00000494593.1:n.1138G>A | ||
| ENST00000495996.1:c.7G>A | ENSP00000484686.1:p.Gly3Ser | |
| ENST00000498765.5:c.406G>A | ||
| NM_000852.3:c.343G>A , LRG_723t1:c.343G>A | NP_000843.1:p.Gly115Ser | |
| NM_000852.4:c.343G>A MANE Select | NP_000843.1:p.Gly115Ser |