HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68669898G>A , CM000666.2:g.68669898G>A | GRCh38 |
NC_000004.11:g.69535616G>A , CM000666.1:g.69535616G>A | GRCh37 |
NC_000004.10:g.69218211G>A | NCBI36 |
NG_052676.1:g.5879C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.721C>T MANE Select | ENSP00000341045.5:p.Leu241= | |
ENST00000338206.5:c.721C>T | ENSP00000341045.5:p.Leu241= | |
ENST00000616841.4:c.721C>T | ENSP00000482004.1:p.Leu241= | |
NM_001076.3:c.721C>T | NP_001067.2:p.Leu241= | |
NM_001076.4:c.721C>T MANE Select | NP_001067.2:p.Leu241= |