Revel Score:
ENST00000296233 (MANE Select)
0.336
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126343784C>A , CM000665.2:g.126343784C>A | GRCh38 |
| NC_000003.11:g.126062627C>A , CM000665.1:g.126062627C>A | GRCh37 |
| NC_000003.10:g.127545317C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296233.4:c.1194G>T MANE Select | ENSP00000296233.3:p.Lys398Asn | |
| ENST00000296233.3:c.1194G>T | ENSP00000296233.3:p.Lys398Asn | |
| NM_014079.3:c.1194G>T | NP_054798.1:p.Lys398Asn | |
| XM_005247400.2:c.1194G>T | XP_005247457.1:p.Lys398Asn | |
| XM_011512743.1:c.1251G>T | XP_011511045.1:p.Lys417Asn | |
| XM_005247400.4:c.1194G>T | XP_005247457.1:p.Lys398Asn | |
| XM_011512743.2:c.1251G>T | XP_011511045.1:p.Lys417Asn | |
| XR_001740124.2:n.1216+8057G>T | ||
| XR_002959509.1:n.1216+8057G>T | ||
| XR_924449.2:n.1216+8057G>T | ||
| NM_014079.4:c.1194G>T MANE Select | NP_054798.1:p.Lys398Asn |