Linked Data
dbSNP Id:
rs140425669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888281T>C , CM000669.2:g.37888281T>C | GRCh38 |
| NC_000007.13:g.37927883T>C , CM000669.1:g.37927883T>C | GRCh37 |
| NC_000007.12:g.37894408T>C | NCBI36 |
| NG_015893.1:g.44685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1252T>C (NME8) MANE Select | ENSP00000199447.4:p.Cys418Arg | |
| ENST00000199447.8:c.1252T>C (NME8) | ENSP00000199447.4:p.Cys418Arg | |
| ENST00000426106.1:c.*198T>C (NME8) | ENSP00000408841.1:n.*198T>C | |
| ENST00000440017.5:c.1252T>C (NME8) | ENSP00000397063.1:p.Cys418Arg | |
| ENST00000476620.1:c.-38+30936T>C (EPDR1) | ENSP00000425858.1:n.-38+30936T>C | |
| NM_016616.4:c.1252T>C (NME8) | NP_057700.3:p.Cys418Arg | |
| NM_016616.5:c.1252T>C (NME8) MANE Select | NP_057700.3:p.Cys418Arg |