Revel Score:
ENST00000345060 (MANE Select)
0.112
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000189 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965706G>C , CM000670.2:g.37965706G>C | GRCh38 |
| NC_000008.10:g.37823224G>C , CM000670.1:g.37823224G>C | GRCh37 |
| NC_000008.9:g.37942381G>C | NCBI36 |
| NG_011936.1:g.5961C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.764C>G MANE Select | ENSP00000343782.3:p.Ser255Trp | |
| ENST00000520341.2:n.892C>G | ||
| ENST00000647937.1:c.248C>G | ENSP00000497740.1:p.Ser83Trp | |
| ENST00000345060.4:c.764C>G | ENSP00000343782.3:p.Ser255Trp | |
| ENST00000520341.1:n.39C>G | ||
| ENST00000614635.1:c.764C>G | ENSP00000480325.1:p.Ser255Trp | |
| NM_000025.2:c.764C>G | NP_000016.1:p.Ser255Trp | |
| NM_000025.3:c.764C>G MANE Select | NP_000016.1:p.Ser255Trp |