Revel Score:
ENST00000264734 (MANE Select)
0.712
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190410026C>A , CM000665.2:g.190410026C>A | GRCh38 |
| NC_000003.11:g.190127815C>A , CM000665.1:g.190127815C>A | GRCh37 |
| NC_000003.10:g.191610509C>A | NCBI36 |
| NG_008149.1:g.26975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.698C>A MANE Select | ENSP00000264734.3:p.Thr233Lys | |
| ENST00000264734.2:c.908C>A | ENSP00000264734.2:p.Thr303Lys | |
| NM_006580.3:c.908C>A | NP_006571.1:p.Thr303Lys | |
| NM_001378492.1:c.698C>A | NP_001365421.1:p.Thr233Lys | |
| NM_001378493.1:c.698C>A | NP_001365422.1:p.Thr233Lys | |
| NM_006580.4:c.698C>A MANE Select | NP_006571.2:p.Thr233Lys |