HGVS | Genome Assembly |
---|---|
NC_000023.11:g.100665264G>T , CM000685.2:g.100665264G>T | GRCh38 |
NC_000023.10:g.99920261G>T , CM000685.1:g.99920261G>T | GRCh37 |
NC_000023.9:g.99806917G>T | NCBI36 |
NG_021337.1:g.26099G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373004.5:c.554G>T MANE Select | ENSP00000362095.3:p.Arg185Leu | |
ENST00000638319.1:n.542G>T | ||
ENST00000638458.1:c.578G>T | ENSP00000492168.1:p.Arg193Leu | |
ENST00000638920.1:n.557G>T | ||
ENST00000640889.1:c.554G>T | ENSP00000492571.1:p.Arg185Leu | |
ENST00000677630.1:n.488G>T | ||
ENST00000679590.1:n.587G>T | ||
ENST00000373004.3:c.554G>T | ENSP00000362095.3:p.Arg185Leu | |
NM_014467.2:c.554G>T | NP_055282.1:p.Arg185Leu | |
XM_005262121.2:c.554G>T | XP_005262178.1:p.Arg185Leu | |
NM_014467.3:c.554G>T MANE Select | NP_055282.1:p.Arg185Leu |