HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154811G= , CM000668.2:g.3154811G= | GRCh38 |
NC_000006.11:g.3155045G= , CM000668.1:g.3155045G= | GRCh37 |
NC_000006.10:g.3100044G= | NCBI36 |
NG_042223.1:g.7739C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.390C= MANE Select | ENSP00000369703.2:p.Leu130= | |
ENST00000679400.1:n.446C= | ||
ENST00000679907.1:n.778C= | ||
ENST00000680036.1:n.1172C= | ||
ENST00000680967.1:n.1480C= | ||
ENST00000333628.3:c.390C= | ENSP00000369703.2:p.Leu130= | |
ENST00000489942.1:n.585C= | ||
NM_001069.2:c.390C= | NP_001060.1:p.Leu130= | |
NM_001310315.1:c.135C= | NP_001297244.1:p.Leu45= | |
NM_001069.3:c.390C= MANE Select | NP_001060.1:p.Leu130= | |
NM_001310315.2:c.135C= | NP_001297244.1:p.Leu45= |