HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74750086C= , CM000677.2:g.74750086C= | GRCh38 |
NC_000015.9:g.75042427C= , CM000677.1:g.75042427C= | GRCh37 |
NC_000015.8:g.72829480C= | NCBI36 |
NG_008431.1:g.32545C= | |
NG_008431.2:g.32545C= | |
NG_061543.1:g.6242C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.348C= MANE Select | ENSP00000342007.4:p.Leu116= | |
ENST00000343932.4:c.348C= | ENSP00000342007.4:p.Leu116= | |
NM_000761.4:c.348C= | NP_000752.2:p.Leu116= | |
NM_000761.5:c.348C= MANE Select | NP_000752.2:p.Leu116= |