Linked Data
dbSNP Id:
rs779450722
ExAC:
7:37927837 G / C
gnomAD v2:
7-37927837-G-C
gnomAD v3:
7-37888235-G-C
gnomAD v4:
7-37888235-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888235G>C , CM000669.2:g.37888235G>C | GRCh38 |
| NC_000007.13:g.37927837G>C , CM000669.1:g.37927837G>C | GRCh37 |
| NC_000007.12:g.37894362G>C | NCBI36 |
| NG_015893.1:g.44639G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1248-42G>C (NME8) MANE Select | ENSP00000199447.4:n.1248-42G>C | |
| ENST00000199447.8:c.1248-42G>C (NME8) | ENSP00000199447.4:n.1248-42G>C | |
| ENST00000426106.1:c.*194-42G>C (NME8) | ENSP00000408841.1:n.*194-42G>C | |
| ENST00000440017.5:c.1248-42G>C (NME8) | ENSP00000397063.1:n.1248-42G>C | |
| ENST00000476620.1:c.-38+30890G>C (EPDR1) | ENSP00000425858.1:n.-38+30890G>C | |
| NM_016616.4:c.1248-42G>C (NME8) | NP_057700.3:n.1248-42G>C | |
| NM_016616.5:c.1248-42G>C (NME8) MANE Select | NP_057700.3:n.1248-42G>C |