Linked Data
ClinVar Variation Id:
3256
dbSNP Id:
rs121918300
ExAC:
7:37927908 T / A
gnomAD v2:
7-37927908-T-A
gnomAD v3:
7-37888306-T-A
gnomAD v4:
7-37888306-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888306T>A , CM000669.2:g.37888306T>A | GRCh38 |
| NC_000007.13:g.37927908T>A , CM000669.1:g.37927908T>A | GRCh37 |
| NC_000007.12:g.37894433T>A | NCBI36 |
| NG_015893.1:g.44710T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000199447.9:c.1277T>A (NME8) MANE Select | ENSP00000199447.4:p.Leu426Ter | |
| ENST00000199447.8:c.1277T>A (NME8) | ENSP00000199447.4:p.Leu426Ter | |
| ENST00000426106.1:c.*223T>A (NME8) | ENSP00000408841.1:n.*223T>A | |
| ENST00000440017.5:c.1277T>A (NME8) | ENSP00000397063.1:p.Leu426Ter | |
| ENST00000476620.1:c.-38+30961T>A (EPDR1) | ENSP00000425858.1:n.-38+30961T>A | |
| NM_016616.4:c.1277T>A (NME8) | NP_057700.3:p.Leu426Ter | |
| NM_016616.5:c.1277T>A (NME8) MANE Select | NP_057700.3:p.Leu426Ter |