Revel Score:
ENST00000368799 (MANE Select)
0.052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152315409C>A , CM000663.2:g.152315409C>A | GRCh38 |
| NC_000001.10:g.152287885C>A , CM000663.1:g.152287885C>A | GRCh37 |
| NC_000001.9:g.150554509C>A | NCBI36 |
| NG_016190.1:g.14795G>T , LRG_1028:g.14795G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.48G>T MANE Select | ENSP00000357789.1:p.Lys16Asn | |
| ENST00000368799.1:c.48G>T | ENSP00000357789.1:p.Lys16Asn | |
| NM_002016.1:c.48G>T , LRG_1028t1:c.48G>T | NP_002007.1:p.Lys16Asn | |
| NR_103778.1:n.914+452C>A | ||
| XM_011509329.1:c.48G>T | XP_011507631.1:p.Lys16Asn | |
| NM_002016.2:c.48G>T MANE Select | NP_002007.1:p.Lys16Asn |