Revel Score:
ENST00000503569
0.806
ENST00000226760 (MANE Select)
0.806
ENST00000540337
0.806
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302184G>A , CM000666.2:g.6302184G>A | GRCh38 |
| NC_000004.11:g.6303911G>A , CM000666.1:g.6303911G>A | GRCh37 |
| NC_000004.10:g.6354812G>A | NCBI36 |
| NG_011700.1:g.37335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2425G>A | ENSP00000507852.1:p.Asp809Asn | |
| ENST00000683395.1:c.2366G>A | ||
| ENST00000684087.1:c.2389G>A | ENSP00000506978.1:p.Asp797Asn | |
| ENST00000506362.2:c.2140G>A | ENSP00000424103.2:p.Asp714Asn | |
| ENST00000673991.1:c.2425G>A | ENSP00000501033.1:p.Asp809Asn | |
| ENST00000226760.5:c.2389G>A MANE Select | ENSP00000226760.1:p.Asp797Asn | |
| ENST00000503569.5:c.2389G>A | ENSP00000423337.1:p.Asp797Asn | |
| ENST00000507765.1:n.2574G>A | ||
| NM_001145853.1:c.2389G>A | NP_001139325.1:p.Asp797Asn | |
| NM_006005.3:c.2389G>A MANE Select | NP_005996.2:p.Asp797Asn | |
| XM_017008586.1:c.2398G>A | XP_016864075.1:p.Asp800Asn |