Revel Score:
ENST00000503569
0.115
ENST00000226760 (MANE Select)
0.115
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010062 (SAS)
Genomes Max Group AF
0.00006835 (EAS)
Exomes Max Group AF
0.00010711 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300930G>A , CM000666.2:g.6300930G>A | GRCh38 |
| NC_000004.11:g.6302657G>A , CM000666.1:g.6302657G>A | GRCh37 |
| NC_000004.10:g.6353558G>A | NCBI36 |
| NG_011700.1:g.36081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1171G>A | ENSP00000507852.1:p.Asp391Asn | |
| ENST00000683395.1:c.1112G>A | ||
| ENST00000684087.1:c.1135G>A | ENSP00000506978.1:p.Asp379Asn | |
| ENST00000506362.2:c.886G>A | ENSP00000424103.2:p.Asp296Asn | |
| ENST00000673642.1:c.794G>A | ENSP00000501242.1:p.Arg265Gln | |
| ENST00000673991.1:c.1171G>A | ENSP00000501033.1:p.Asp391Asn | |
| ENST00000226760.5:c.1135G>A MANE Select | ENSP00000226760.1:p.Asp379Asn | |
| ENST00000503569.5:c.1135G>A | ENSP00000423337.1:p.Asp379Asn | |
| ENST00000507765.1:n.1320G>A | ||
| NM_001145853.1:c.1135G>A | NP_001139325.1:p.Asp379Asn | |
| NM_006005.3:c.1135G>A MANE Select | NP_005996.2:p.Asp379Asn | |
| XM_017008586.1:c.1144G>A | XP_016864075.1:p.Asp382Asn |