Linked Data
ClinVar Variation Id:
409674
dbSNP Id:
rs369201077
ExAC:
7:37903011 C / T
gnomAD v2:
7-37903011-C-T
gnomAD v3:
7-37863409-C-T
gnomAD v4:
7-37863409-C-T
COSMIC:
COSM1698577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37863409C>T , CM000669.2:g.37863409C>T | GRCh38 |
| NC_000007.13:g.37903011C>T , CM000669.1:g.37903011C>T | GRCh37 |
| NC_000007.12:g.37869536C>T | NCBI36 |
| NG_015893.1:g.19813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.401C>T (NME8) MANE Select | ENSP00000199447.4:p.Pro134Leu | |
| ENST00000199447.8:c.401C>T (NME8) | ENSP00000199447.4:p.Pro134Leu | |
| ENST00000426106.1:c.105+6064C>T (NME8) | ENSP00000408841.1:n.105+6064C>T | |
| ENST00000440017.5:c.401C>T (NME8) | ENSP00000397063.1:p.Pro134Leu | |
| ENST00000444718.5:c.236C>T (NME8) | ENSP00000390596.1:p.Pro79Leu | |
| ENST00000455500.5:c.236C>T (NME8) | ENSP00000390047.1:p.Pro79Leu | |
| ENST00000476620.1:c.-38+6064C>T (EPDR1) | ENSP00000425858.1:n.-38+6064C>T | |
| NM_016616.4:c.401C>T (NME8) | NP_057700.3:p.Pro134Leu | |
| NM_016616.5:c.401C>T (NME8) MANE Select | NP_057700.3:p.Pro134Leu |