Revel Score:
ENST00000219593
0.160
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21209683T>C , CM000678.2:g.21209683T>C | GRCh38 |
| NC_000016.9:g.21221004T>C , CM000678.1:g.21221004T>C | GRCh37 |
| NC_000016.8:g.21128505T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574091.6:c.278A>G MANE Select | ENSP00000458991.2:p.Asp93Gly | |
| ENST00000572752.1:n.673A>G | ||
| ENST00000574002.1:c.278A>G | ENSP00000460971.1:p.Asp93Gly | |
| ENST00000574091.5:c.278A>G | ENSP00000458991.1:p.Asp93Gly | |
| ENST00000576162.5:n.305A>G | ||
| NM_001290104.1:c.278A>G | NP_001277033.1:p.Asp93Gly | |
| NM_003460.2:c.278A>G | NP_003451.1:p.Asp93Gly | |
| XM_011545942.1:c.278A>G | XP_011544244.1:p.Asp93Gly | |
| XM_011545942.3:c.395A>G | XP_011544244.2:p.Asp132Gly | |
| XR_001751977.2:n.472A>G | ||
| NM_001376231.1:c.278A>G | NP_001363160.1:p.Asp93Gly | |
| NM_001376232.1:c.278A>G MANE Select | NP_001363161.1:p.Asp93Gly | |
| NM_001376233.1:c.278A>G | NP_001363162.1:p.Asp93Gly | |
| NR_164788.1:n.305A>G |