Linked Data
ClinVar Variation Id:
2089694
ClinVar RCV Id:
RCV003005668
dbSNP Id:
rs981266761
gnomAD v4:
7-37864350-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37864350G>T , CM000669.2:g.37864350G>T | GRCh38 |
| NC_000007.13:g.37903952G>T , CM000669.1:g.37903952G>T | GRCh37 |
| NC_000007.12:g.37870477G>T | NCBI36 |
| NG_015893.1:g.20754G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.457G>T (NME8) MANE Select | ENSP00000199447.4:p.Glu153Ter | |
| ENST00000199447.8:c.457G>T (NME8) | ENSP00000199447.4:p.Glu153Ter | |
| ENST00000426106.1:c.105+7005G>T (NME8) | ENSP00000408841.1:n.105+7005G>T | |
| ENST00000440017.5:c.457G>T (NME8) | ENSP00000397063.1:p.Glu153Ter | |
| ENST00000444718.5:c.292G>T (NME8) | ENSP00000390596.1:p.Glu98Ter | |
| ENST00000455500.5:c.292G>T (NME8) | ENSP00000390047.1:p.Glu98Ter | |
| ENST00000476620.1:c.-38+7005G>T (EPDR1) | ENSP00000425858.1:n.-38+7005G>T | |
| NM_016616.4:c.457G>T (NME8) | NP_057700.3:p.Glu153Ter | |
| NM_016616.5:c.457G>T (NME8) MANE Select | NP_057700.3:p.Glu153Ter |