Revel Score:
ENST00000320005 (MANE Select)
0.059
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86743617G>A , CM000670.2:g.86743617G>A | GRCh38 |
| NC_000008.10:g.87755845G>A , CM000670.1:g.87755845G>A | GRCh37 |
| NC_000008.9:g.87824961G>A | NCBI36 |
| NG_016980.1:g.5059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.11C>T MANE Select | ENSP00000316605.5:p.Ser4Leu | |
| ENST00000681746.1:c.11C>T | ENSP00000505959.1:p.Ser4Leu | |
| ENST00000320005.5:c.11C>T | ENSP00000316605.5:p.Ser4Leu | |
| NM_019098.4:c.11C>T | NP_061971.3:p.Ser4Leu | |
| NM_019098.5:c.11C>T MANE Select | NP_061971.3:p.Ser4Leu |