HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31076283C>T , CM000670.2:g.31076283C>T | GRCh38 |
NC_000008.10:g.30933799C>T , CM000670.1:g.30933799C>T | GRCh37 |
NC_000008.9:g.31053341C>T | NCBI36 |
NG_008870.1:g.48022C>T , LRG_524:g.48022C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.835C>T MANE Select | ENSP00000298139.5:p.Arg279Trp | |
ENST00000650667.1:c.*449C>T | ENSP00000498593.1:n.*449C>T | |
ENST00000651642.1:c.130C>T | ENSP00000498779.1:p.Arg44Trp | |
ENST00000298139.5:c.835C>T | ENSP00000298139.5:p.Arg279Trp | |
NM_000553.4:c.835C>T , LRG_524t1:c.835C>T | NP_000544.2:p.Arg279Trp | |
XM_011544639.1:c.835C>T | XP_011542941.1:p.Arg279Trp | |
XR_949470.1:n.1108C>T | ||
XR_949471.1:n.1108C>T | ||
XR_949472.1:n.1108C>T | ||
NM_000553.5:c.835C>T | NP_000544.2:p.Arg279Trp | |
XM_011544639.3:c.835C>T | XP_011542941.1:p.Arg279Trp | |
XM_024447265.1:c.625C>T | XP_024303033.1:p.Arg209Trp | |
XR_949470.3:n.1136C>T | ||
XR_949471.3:n.1136C>T | ||
XR_949472.3:n.1136C>T | ||
NM_000553.6:c.835C>T MANE Select | NP_000544.2:p.Arg279Trp |