HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312813C>T , CM000673.2:g.118312813C>T | GRCh38 |
NC_000011.9:g.118183528C>T , CM000673.1:g.118183528C>T | GRCh37 |
NC_000011.8:g.117688738C>T | NCBI36 |
NG_007383.1:g.13234C>T , LRG_38:g.13234C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.299C>T MANE Select | ENSP00000354566.4:p.Pro100Leu | |
ENST00000361763.8:c.299C>T | ENSP00000354566.4:p.Pro100Leu | |
ENST00000526146.5:n.845C>T | ||
ENST00000528435.5:n.852C>T | ||
ENST00000528600.1:c.281C>T | ENSP00000433975.1:p.Pro94Leu | |
ENST00000529713.5:n.405C>T | ||
ENST00000531913.1:n.670C>T | ||
NM_000733.3:c.299C>T , LRG_38t1:c.299C>T | NP_000724.1:p.Pro100Leu | |
NM_000733.4:c.299C>T MANE Select | NP_000724.1:p.Pro100Leu |