Linked Data
dbSNP Id:
rs1785073594
gnomAD v4:
7-37888280-A-G
MyVariant Identifiers:
chr7:g.37927882A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888280A>G , CM000669.2:g.37888280A>G | GRCh38 |
| NC_000007.13:g.37927882A>G , CM000669.1:g.37927882A>G | GRCh37 |
| NC_000007.12:g.37894407A>G | NCBI36 |
| NG_015893.1:g.44684A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1251A>G (NME8) MANE Select | ENSP00000199447.4:p.Leu417= | |
| ENST00000199447.8:c.1251A>G (NME8) | ENSP00000199447.4:p.Leu417= | |
| ENST00000426106.1:c.*197A>G (NME8) | ENSP00000408841.1:n.*197A>G | |
| ENST00000440017.5:c.1251A>G (NME8) | ENSP00000397063.1:p.Leu417= | |
| ENST00000476620.1:c.-38+30935A>G (EPDR1) | ENSP00000425858.1:n.-38+30935A>G | |
| NM_016616.4:c.1251A>G (NME8) | NP_057700.3:p.Leu417= | |
| NM_016616.5:c.1251A>G (NME8) MANE Select | NP_057700.3:p.Leu417= |