HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749780T>A , CM000677.2:g.74749780T>A | GRCh38 |
NC_000015.9:g.75042121T>A , CM000677.1:g.75042121T>A | GRCh37 |
NC_000015.8:g.72829174T>A | NCBI36 |
NG_008431.1:g.32239T>A | |
NG_008431.2:g.32239T>A | |
NG_061543.1:g.5936T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.42T>A MANE Select | ENSP00000342007.4:p.Leu14= | |
ENST00000343932.4:c.42T>A | ENSP00000342007.4:p.Leu14= | |
NM_000761.4:c.42T>A | NP_000752.2:p.Leu14= | |
NM_000761.5:c.42T>A MANE Select | NP_000752.2:p.Leu14= |