HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21880789C= , CM000669.2:g.21880789C= | GRCh38 |
NC_000007.13:g.21920407C= , CM000669.1:g.21920407C= | GRCh37 |
NC_000007.12:g.21886932C= | NCBI36 |
NG_012886.2:g.342575C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.12283C= MANE Select | ENSP00000475939.1:p.Leu4095= | |
ENST00000328843.10:c.12304C= | ENSP00000330671.7:p.Leu4102= | |
ENST00000409508.7:c.12283C= | ENSP00000475939.1:p.Leu4095= | |
ENST00000620169.4:c.12304C= | ENSP00000481693.1:p.Leu4102= | |
NM_001277115.1:c.12283C= | NP_001264044.1:p.Leu4095= | |
NM_001277115.2:c.12283C= MANE Select | NP_001264044.1:p.Leu4095= |