Linked Data
gnomAD v4:
7-37888312-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888312T>C , CM000669.2:g.37888312T>C | GRCh38 |
| NC_000007.13:g.37927914T>C , CM000669.1:g.37927914T>C | GRCh37 |
| NC_000007.12:g.37894439T>C | NCBI36 |
| NG_015893.1:g.44716T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1283T>C (NME8) MANE Select | ENSP00000199447.4:p.Val428Ala | |
| ENST00000199447.8:c.1283T>C (NME8) | ENSP00000199447.4:p.Val428Ala | |
| ENST00000426106.1:c.*229T>C (NME8) | ENSP00000408841.1:n.*229T>C | |
| ENST00000440017.5:c.1283T>C (NME8) | ENSP00000397063.1:p.Val428Ala | |
| ENST00000476620.1:c.-38+30967T>C (EPDR1) | ENSP00000425858.1:n.-38+30967T>C | |
| NM_016616.4:c.1283T>C (NME8) | NP_057700.3:p.Val428Ala | |
| NM_016616.5:c.1283T>C (NME8) MANE Select | NP_057700.3:p.Val428Ala |