Linked Data
ClinVar Variation Id:
2884808
ClinVar RCV Id:
RCV003608538
dbSNP Id:
rs761334758
ExAC:
7:37903020 A / T
gnomAD v2:
7-37903020-A-T
gnomAD v3:
7-37863418-A-T
gnomAD v4:
7-37863418-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37863418A>T , CM000669.2:g.37863418A>T | GRCh38 |
| NC_000007.13:g.37903020A>T , CM000669.1:g.37903020A>T | GRCh37 |
| NC_000007.12:g.37869545A>T | NCBI36 |
| NG_015893.1:g.19822A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.410A>T (NME8) MANE Select | ENSP00000199447.4:p.Asp137Val | |
| ENST00000199447.8:c.410A>T (NME8) | ENSP00000199447.4:p.Asp137Val | |
| ENST00000426106.1:c.105+6073A>T (NME8) | ENSP00000408841.1:n.105+6073A>T | |
| ENST00000440017.5:c.410A>T (NME8) | ENSP00000397063.1:p.Asp137Val | |
| ENST00000444718.5:c.245A>T (NME8) | ENSP00000390596.1:p.Asp82Val | |
| ENST00000455500.5:c.245A>T (NME8) | ENSP00000390047.1:p.Asp82Val | |
| ENST00000476620.1:c.-38+6073A>T (EPDR1) | ENSP00000425858.1:n.-38+6073A>T | |
| NM_016616.4:c.410A>T (NME8) | NP_057700.3:p.Asp137Val | |
| NM_016616.5:c.410A>T (NME8) MANE Select | NP_057700.3:p.Asp137Val |