HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312762C>T , CM000673.2:g.118312762C>T | GRCh38 |
NC_000011.9:g.118183477C>T , CM000673.1:g.118183477C>T | GRCh37 |
NC_000011.8:g.117688687C>T | NCBI36 |
NG_007383.1:g.13183C>T , LRG_38:g.13183C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.248C>T MANE Select | ENSP00000354566.4:p.Ser83Leu | |
ENST00000361763.8:c.248C>T | ENSP00000354566.4:p.Ser83Leu | |
ENST00000526146.5:n.794C>T | ||
ENST00000528435.5:n.801C>T | ||
ENST00000528600.1:c.230C>T | ENSP00000433975.1:p.Ser77Leu | |
ENST00000529713.5:n.354C>T | ||
ENST00000531913.1:n.619C>T | ||
NM_000733.3:c.248C>T , LRG_38t1:c.248C>T | NP_000724.1:p.Ser83Leu | |
NM_000733.4:c.248C>T MANE Select | NP_000724.1:p.Ser83Leu |