Linked Data
ClinVar Variation Id:
468995
dbSNP Id:
rs199901385
ExAC:
7:37903064 C / T
gnomAD v2:
7-37903064-C-T
gnomAD v3:
7-37863462-C-T
gnomAD v4:
7-37863462-C-T
COSMIC:
COSM299591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37863462C>T , CM000669.2:g.37863462C>T | GRCh38 |
| NC_000007.13:g.37903064C>T , CM000669.1:g.37903064C>T | GRCh37 |
| NC_000007.12:g.37869589C>T | NCBI36 |
| NG_015893.1:g.19866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.454C>T (NME8) MANE Select | ENSP00000199447.4:p.Gln152Ter | |
| ENST00000199447.8:c.454C>T (NME8) | ENSP00000199447.4:p.Gln152Ter | |
| ENST00000426106.1:c.105+6117C>T (NME8) | ENSP00000408841.1:n.105+6117C>T | |
| ENST00000440017.5:c.454C>T (NME8) | ENSP00000397063.1:p.Gln152Ter | |
| ENST00000444718.5:c.289C>T (NME8) | ENSP00000390596.1:p.Gln97Ter | |
| ENST00000455500.5:c.289C>T (NME8) | ENSP00000390047.1:p.Gln97Ter | |
| ENST00000476620.1:c.-38+6117C>T (EPDR1) | ENSP00000425858.1:n.-38+6117C>T | |
| NM_016616.4:c.454C>T (NME8) | NP_057700.3:p.Gln152Ter | |
| NM_016616.5:c.454C>T (NME8) MANE Select | NP_057700.3:p.Gln152Ter |