Linked Data
dbSNP Id:
rs979972783
gnomAD v2:
7-37927854-T-G
gnomAD v3:
7-37888252-T-G
gnomAD v4:
7-37888252-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888252T>G , CM000669.2:g.37888252T>G | GRCh38 |
| NC_000007.13:g.37927854T>G , CM000669.1:g.37927854T>G | GRCh37 |
| NC_000007.12:g.37894379T>G | NCBI36 |
| NG_015893.1:g.44656T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1248-25T>G (NME8) MANE Select | ENSP00000199447.4:n.1248-25T>G | |
| ENST00000199447.8:c.1248-25T>G (NME8) | ENSP00000199447.4:n.1248-25T>G | |
| ENST00000426106.1:c.*194-25T>G (NME8) | ENSP00000408841.1:n.*194-25T>G | |
| ENST00000440017.5:c.1248-25T>G (NME8) | ENSP00000397063.1:n.1248-25T>G | |
| ENST00000476620.1:c.-38+30907T>G (EPDR1) | ENSP00000425858.1:n.-38+30907T>G | |
| NM_016616.4:c.1248-25T>G (NME8) | NP_057700.3:n.1248-25T>G | |
| NM_016616.5:c.1248-25T>G (NME8) MANE Select | NP_057700.3:n.1248-25T>G |