Revel Score:
ENST00000425985
0.563
ENST00000319363 (MANE Select)
0.563
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17108378G>A , CM000684.2:g.17108378G>A | GRCh38 |
| NC_000022.10:g.17589268G>A , CM000684.1:g.17589268G>A | GRCh37 |
| NC_000022.9:g.15969268G>A | NCBI36 |
| NG_028257.1:g.28418G>A , LRG_355:g.28418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.1057G>A | ENSP00000479970.1:p.Asp353Asn | |
| ENST00000319363.11:c.1159G>A MANE Select | ENSP00000320936.6:p.Asp387Asn | |
| ENST00000319363.10:c.1159G>A | ENSP00000320936.6:p.Asp387Asn | |
| ENST00000612619.1:c.1057G>A | ENSP00000479970.1:p.Asp353Asn | |
| NM_001289905.1:c.1057G>A | NP_001276834.1:p.Asp353Asn | |
| NM_014339.6:c.1159G>A , LRG_355t1:c.1159G>A | NP_055154.3:p.Asp387Asn | |
| NM_014339.7:c.1159G>A MANE Select | NP_055154.3:p.Asp387Asn | |
| NM_001289905.2:c.1057G>A | NP_001276834.1:p.Asp353Asn |