HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31111747C>T , CM000670.2:g.31111747C>T | GRCh38 |
NC_000008.10:g.30969263C>T , CM000670.1:g.30969263C>T | GRCh37 |
NC_000008.9:g.31088805C>T | NCBI36 |
NG_008870.1:g.83486C>T , LRG_524:g.83486C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.2221C>T MANE Select | ENSP00000298139.5:p.Arg741Ter | |
ENST00000650667.1:c.*1835C>T | ENSP00000498593.1:n.*1835C>T | |
ENST00000298139.5:c.2221C>T | ENSP00000298139.5:p.Arg741Ter | |
ENST00000521620.5:n.854C>T | ||
NM_000553.4:c.2221C>T , LRG_524t1:c.2221C>T | NP_000544.2:p.Arg741Ter | |
XM_011544639.1:c.2140C>T | XP_011542941.1:p.Arg714Ter | |
XM_011544640.1:c.622C>T | XP_011542942.1:p.Arg208Ter | |
XR_949470.1:n.2494C>T | ||
XR_949471.1:n.2494C>T | ||
XR_949472.1:n.2494C>T | ||
NM_000553.5:c.2221C>T | NP_000544.2:p.Arg741Ter | |
XM_011544639.3:c.2140C>T | XP_011542941.1:p.Arg714Ter | |
XM_024447265.1:c.2011C>T | XP_024303033.1:p.Arg671Ter | |
XR_949470.3:n.2522C>T | ||
XR_949471.3:n.2522C>T | ||
XR_949472.3:n.2522C>T | ||
NM_000553.6:c.2221C>T MANE Select | NP_000544.2:p.Arg741Ter |