HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19723968G= , CM000684.2:g.19723968G= | GRCh38 |
NC_000022.10:g.19711491G= , CM000684.1:g.19711491G= | GRCh37 |
NC_000022.9:g.18091491G= | NCBI36 |
NG_007974.1:g.5426G= , LRG_478:g.5426G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.125G= (GP1BB) MANE Select | ENSP00000383382.2:p.Arg42= | |
ENST00000366425.3:c.125G= (GP1BB) | ENSP00000383382.2:p.Arg42= | |
ENST00000431044.5:c.*1210G= (SEPTIN5) | ENSP00000399685.1:n.*1210G= | |
ENST00000455843.5:c.*1210G= (SEPTIN5) | ENSP00000391731.1:n.*1210G= | |
ENST00000470814.1:n.2097G= (SEPTIN5) | ||
NM_000407.4:c.125G= , LRG_478t1:c.125G= (GP1BB) | NP_000398.1:p.Arg42= | |
NR_037611.1:n.3865G= | ||
NR_037612.1:n.2369G= | ||
NM_000407.5:c.125G= (GP1BB) MANE Select | NP_000398.1:p.Arg42= |