ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
Revel Score:
ENST00000252242 (MANE Select)
0.912
ENST00000456000
0.912
ENST00000549420
0.912
ENST00000551275
0.912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519795C>T , CM000674.2:g.52519795C>T | GRCh38 |
| NC_000012.11:g.52913579C>T , CM000674.1:g.52913579C>T | GRCh37 |
| NC_000012.10:g.51199846C>T | NCBI36 |
| NG_008297.1:g.5665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.502G>A MANE Select | ENSP00000252242.4:p.Glu168Lys | |
| ENST00000252242.8:c.502G>A | ENSP00000252242.4:p.Glu168Lys | |
| ENST00000549420.1:c.172G>A | ENSP00000447209.1:p.Glu58Lys | |
| ENST00000551275.1:c.397G>A | ENSP00000448041.1:p.Glu133Lys | |
| ENST00000552629.5:n.600G>A | ||
| NM_000424.3:c.502G>A | NP_000415.2:p.Glu168Lys | |
| NM_000424.4:c.502G>A MANE Select | NP_000415.2:p.Glu168Lys |