HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659454A>G , CM000665.2:g.180659454A>G | GRCh38 |
NC_000003.11:g.180377242A>G , CM000665.1:g.180377242A>G | GRCh37 |
NC_000003.10:g.181859936A>G | NCBI36 |
NG_029581.1:g.25042T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.736T>C MANE Select | ENSP00000417960.2:p.Leu246= | |
ENST00000650641.1:n.815T>C | ||
ENST00000650889.1:n.908T>C | ||
ENST00000651046.1:c.736T>C | ENSP00000499175.1:p.Leu246= | |
ENST00000651818.1:n.878T>C | ||
ENST00000652024.1:n.827T>C | ||
ENST00000652408.1:n.873T>C | ||
ENST00000442201.6:c.736T>C | ENSP00000405708.2:p.Leu246= | |
ENST00000476379.5:c.736T>C | ENSP00000417960.1:p.Leu246= | |
NM_181426.1:c.736T>C | NP_852091.1:p.Leu246= | |
NM_181426.2:c.736T>C MANE Select | NP_852091.1:p.Leu246= |