HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539881G>A , CM000663.2:g.100539881G>A | GRCh38 |
NC_000001.10:g.101005437G>A , CM000663.1:g.101005437G>A | GRCh37 |
NC_000001.9:g.100778025G>A | NCBI36 |
NG_053134.1:g.6710G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.915G>A MANE Select | ENSP00000314223.4:p.Leu305= | |
ENST00000315033.4:c.915G>A | ENSP00000314223.4:p.Leu305= | |
NM_022049.2:c.915G>A | NP_071332.2:p.Leu305= | |
NM_022049.3:c.915G>A MANE Select | NP_071332.2:p.Leu305= |