Revel Score:
ENST00000520113 (MANE Select)
0.762
ENST00000369538
0.762
ENST00000353928
0.762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677910C>A , CM000663.2:g.114677910C>A | GRCh38 |
| NC_000001.10:g.115220531C>A , CM000663.1:g.115220531C>A | GRCh37 |
| NC_000001.9:g.115022054C>A | NCBI36 |
| NG_008012.1:g.22646G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212G>T | ENSP00000358551.4:p.Lys404Asn | |
| ENST00000520113.7:c.1224G>T MANE Select | ENSP00000430075.3:p.Lys408Asn | |
| ENST00000637080.1:c.1007G>T | ENSP00000489753.1:n.1007G>T | |
| ENST00000639077.1:n.889G>T | ||
| ENST00000369538.3:c.1311G>T | ENSP00000358551.3:p.Lys437Asn | |
| ENST00000520113.6:c.1323G>T | ENSP00000430075.2:p.Lys441Asn | |
| NM_000036.2:c.1323G>T | NP_000027.2:p.Lys441Asn | |
| NM_001172626.1:c.1311G>T | NP_001166097.1:p.Lys437Asn | |
| NM_000036.3:c.1224G>T MANE Select | NP_000027.3:p.Lys408Asn | |
| NM_001172626.2:c.1212G>T | NP_001166097.2:p.Lys404Asn |