Revel Score:
ENST00000215743 (MANE Select)
0.110
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037216 (AMR)
Genomes Max Group AF
0.00008869 (AMR)
Exomes Max Group AF
0.00042774 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23779190G>T , CM000684.2:g.23779190G>T | GRCh38 |
| NC_000022.10:g.24121377G>T , CM000684.1:g.24121377G>T | GRCh37 |
| NC_000022.9:g.22451377G>T | NCBI36 |
| NG_029443.1:g.11342G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215743.8:c.112G>T MANE Select | ENSP00000215743.3:p.Ala38Ser | |
| ENST00000215743.7:c.112G>T | ENSP00000215743.3:p.Ala38Ser | |
| ENST00000428253.1:c.112G>T | ENSP00000409860.1:p.Ala38Ser | |
| ENST00000437086.5:c.112G>T | ENSP00000408070.1:p.Ala38Ser | |
| ENST00000460352.1:n.172G>T | ||
| ENST00000465385.5:n.754G>T | ||
| ENST00000465730.1:n.137G>T | ||
| ENST00000477567.5:n.276G>T | ||
| ENST00000489582.5:n.138G>T | ||
| NM_005940.3:c.112G>T | NP_005931.2:p.Ala38Ser | |
| NM_005940.4:c.112G>T | NP_005931.2:p.Ala38Ser | |
| NR_133013.1:n.164G>T | ||
| NM_005940.5:c.112G>T MANE Select | NP_005931.2:p.Ala38Ser | |
| NR_133013.2:n.134G>T |