Revel Score:
ENST00000394236 (MANE Select)
0.489
ENST00000407433
0.489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93892993A>T , CM000665.2:g.93892993A>T | GRCh38 |
| NC_000003.11:g.93611837A>T , CM000665.1:g.93611837A>T | GRCh37 |
| NC_000003.10:g.95094527A>T | NCBI36 |
| NG_009813.1:g.86098T>A , LRG_572:g.86098T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1095T>A | ENSP00000330021.7:p.Asn365Lys | |
| ENST00000394236.9:c.1095T>A MANE Select | ENSP00000377783.3:p.Asn365Lys | |
| ENST00000407433.6:c.1050T>A | ENSP00000385794.2:p.Asn350Lys | |
| ENST00000647936.1:c.1095T>A | ENSP00000496822.1:p.Asn365Lys | |
| ENST00000648381.1:n.1263T>A | ||
| ENST00000648853.1:c.1053T>A | ENSP00000497262.1:p.Asn351Lys | |
| ENST00000649103.1:c.1194T>A | ENSP00000497962.1:n.1194T>A | |
| ENST00000650591.1:c.1191T>A | ENSP00000497376.1:p.Asn397Lys | |
| ENST00000394236.7:c.1095T>A | ENSP00000377783.3:p.Asn365Lys | |
| ENST00000407433.5:c.702T>A | ENSP00000385794.1:p.Asn234Lys | |
| NM_000313.3:c.1095T>A , LRG_572t1:c.1095T>A | NP_000304.2:p.Asn365Lys | |
| NM_001314077.1:c.1191T>A , LRG_572t2:c.1191T>A | NP_001301006.1:p.Asn397Lys | |
| NM_000313.4:c.1095T>A MANE Select | NP_000304.2:p.Asn365Lys | |
| NM_001314077.2:c.1191T>A | NP_001301006.1:p.Asn397Lys |