HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74755058C>G , CM000677.2:g.74755058C>G | GRCh38 |
NC_000015.9:g.75047399C>G , CM000677.1:g.75047399C>G | GRCh37 |
NC_000015.8:g.72834452C>G | NCBI36 |
NG_008431.1:g.37517C>G | |
NG_008431.2:g.37517C>G | |
NG_061543.1:g.11214C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1521C>G MANE Select | ENSP00000342007.4:p.Val507= | |
ENST00000343932.4:c.1521C>G | ENSP00000342007.4:p.Val507= | |
NM_000761.4:c.1521C>G | NP_000752.2:p.Val507= | |
NM_000761.5:c.1521C>G MANE Select | NP_000752.2:p.Val507= |