HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19723866C= , CM000684.2:g.19723866C= | GRCh38 |
NC_000022.10:g.19711389C= , CM000684.1:g.19711389C= | GRCh37 |
NC_000022.9:g.18091389C= | NCBI36 |
NG_007974.1:g.5324C= , LRG_478:g.5324C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.23C= (GP1BB) MANE Select | ENSP00000383382.2:p.Ala8= | |
ENST00000366425.3:c.23C= (GP1BB) | ENSP00000383382.2:p.Ala8= | |
ENST00000431044.5:c.*1108C= (SEPTIN5) | ENSP00000399685.1:n.*1108C= | |
ENST00000455843.5:c.*1108C= (SEPTIN5) | ENSP00000391731.1:n.*1108C= | |
ENST00000470814.1:n.1995C= (SEPTIN5) | ||
NM_000407.4:c.23C= , LRG_478t1:c.23C= (GP1BB) | NP_000398.1:p.Ala8= | |
NR_037611.1:n.3763C= | ||
NR_037612.1:n.2267C= | ||
NM_000407.5:c.23C= (GP1BB) MANE Select | NP_000398.1:p.Ala8= |