Revel Score:
ENST00000506883
0.302
ENST00000511045
0.302
ENST00000457717
0.302
ENST00000265517 (MANE Select)
0.302
ENST00000422897
0.302
ENST00000538053
0.302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583517G>T , CM000666.2:g.99583517G>T | GRCh38 |
| NC_000004.11:g.100504674G>T , CM000666.1:g.100504674G>T | GRCh37 |
| NC_000004.10:g.100723697G>T | NCBI36 |
| NG_011469.1:g.24435G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.393G>T MANE Select | ENSP00000265517.5:p.Lys131Asn | |
| ENST00000457717.6:c.393G>T | ENSP00000400821.1:p.Lys131Asn | |
| ENST00000511045.6:c.144G>T | ENSP00000427679.2:p.Lys48Asn | |
| ENST00000265517.9:c.393G>T | ENSP00000265517.5:p.Lys131Asn | |
| ENST00000422897.6:c.393G>T | ENSP00000407350.2:p.Lys131Asn | |
| ENST00000457717.5:c.393G>T | ENSP00000400821.1:p.Lys131Asn | |
| ENST00000506883.5:c.423G>T | ENSP00000426755.1:p.Lys141Asn | |
| ENST00000511045.5:c.474G>T | ENSP00000427679.1:p.Lys158Asn | |
| ENST00000619629.1:c.393G>T | ENSP00000482850.1:p.Lys131Asn | |
| NM_000253.3:c.393G>T | NP_000244.2:p.Lys131Asn | |
| NM_001300785.1:c.474G>T | NP_001287714.1:p.Lys158Asn | |
| NM_000253.4:c.393G>T | NP_000244.2:p.Lys131Asn | |
| NM_001300785.2:c.144G>T | NP_001287714.2:p.Lys48Asn | |
| NM_001386140.1:c.393G>T MANE Select | NP_001373069.1:p.Lys131Asn |