Revel Score:
ENST00000225430 (MANE Select)
0.319
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001332 (AMR)
Genomes Max Group AF
0.00005331 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39201238G>T , CM000679.2:g.39201238G>T | GRCh38 |
| NC_000017.10:g.37357491G>T , CM000679.1:g.37357491G>T | GRCh37 |
| NC_000017.9:g.34611017G>T | NCBI36 |
| NG_052811.1:g.1466C>A | |
| NG_053022.1:g.5956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225430.9:c.31G>T MANE Select | ENSP00000225430.4:p.Ala11Ser | |
| ENST00000577741.2:n.59G>T | ||
| ENST00000585199.2:n.276G>T | ||
| ENST00000678012.1:c.31G>T | ENSP00000504028.1:p.Ala11Ser | |
| ENST00000678147.1:c.31G>T | ENSP00000504751.1:p.Ala11Ser | |
| ENST00000678189.1:n.224G>T | ||
| ENST00000678573.1:c.91G>T | ENSP00000503598.1:p.Ala31Ser | |
| ENST00000678609.1:c.31G>T | ENSP00000502971.1:p.Ala11Ser | |
| ENST00000678791.1:n.805G>T | ||
| ENST00000679038.1:c.31G>T | ENSP00000504153.1:p.Ala11Ser | |
| ENST00000225430.8:c.31G>T | ENSP00000225430.4:p.Ala11Ser | |
| ENST00000579260.5:c.25G>T | ENSP00000464538.1:p.Ala9Ser | |
| ENST00000579374.5:c.22G>T | ENSP00000463985.1:p.Ala8Ser | |
| ENST00000580333.1:n.59G>T | ||
| ENST00000582193.5:c.25G>T | ENSP00000462938.1:p.Ala9Ser | |
| ENST00000585199.1:c.91G>T | ENSP00000463329.1:p.Ala31Ser | |
| NM_000981.3:c.31G>T | NP_000972.1:p.Ala11Ser | |
| XM_005257564.2:c.25G>T | XP_005257621.1:p.Ala9Ser | |
| NM_000981.4:c.31G>T MANE Select | NP_000972.1:p.Ala11Ser | |
| NM_001330200.1:c.25G>T | NP_001317129.1:p.Ala9Ser |