HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31167138T>A , CM000670.2:g.31167138T>A | GRCh38 |
NC_000008.10:g.31024654T>A , CM000670.1:g.31024654T>A | GRCh37 |
NC_000008.9:g.31144196T>A | NCBI36 |
NG_008870.1:g.138877T>A , LRG_524:g.138877T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.4099T>A MANE Select | ENSP00000298139.5:p.Cys1367Ser | |
ENST00000650667.1:c.*3713T>A | ENSP00000498593.1:n.*3713T>A | |
ENST00000651946.1:n.323T>A | ||
ENST00000298139.5:c.4099T>A | ENSP00000298139.5:p.Cys1367Ser | |
ENST00000521620.5:n.2732T>A | ||
NM_000553.4:c.4099T>A , LRG_524t1:c.4099T>A | NP_000544.2:p.Cys1367Ser | |
XM_011544639.1:c.4018T>A | XP_011542941.1:p.Cys1340Ser | |
XM_011544640.1:c.2500T>A | XP_011542942.1:p.Cys834Ser | |
XR_949643.1:n.320A>T | ||
XR_949644.1:n.320A>T | ||
XR_949645.1:n.320A>T | ||
XR_949646.1:n.320A>T | ||
XR_949647.1:n.933A>T | ||
XR_949648.1:n.835A>T | ||
NM_000553.5:c.4099T>A | NP_000544.2:p.Cys1367Ser | |
XM_011544639.3:c.4018T>A | XP_011542941.1:p.Cys1340Ser | |
XM_024447265.1:c.3889T>A | XP_024303033.1:p.Cys1297Ser | |
NM_000553.6:c.4099T>A MANE Select | NP_000544.2:p.Cys1367Ser |