HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81670918G>A , CM000665.2:g.81670918G>A | GRCh38 |
NC_000003.11:g.81720069G>A , CM000665.1:g.81720069G>A | GRCh37 |
NC_000003.10:g.81802759G>A | NCBI36 |
NG_011810.1:g.95883C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.349C>T MANE Select | ENSP00000410833.2:p.Leu117= | |
ENST00000429644.6:c.349C>T | ENSP00000410833.2:p.Leu117= | |
ENST00000477426.1:n.65C>T | ||
ENST00000489715.1:c.226C>T | ENSP00000419638.1:p.Leu76= | |
NM_000158.3:c.349C>T | NP_000149.3:p.Leu117= | |
NM_000158.4:c.349C>T MANE Select | NP_000149.4:p.Leu117= |