HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19723986C>T , CM000684.2:g.19723986C>T | GRCh38 |
NC_000022.10:g.19711509C>T , CM000684.1:g.19711509C>T | GRCh37 |
NC_000022.9:g.18091509C>T | NCBI36 |
NG_007974.1:g.5444C>T , LRG_478:g.5444C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.143C>T (GP1BB) MANE Select | ENSP00000383382.2:p.Ser48Leu | |
ENST00000366425.3:c.143C>T (GP1BB) | ENSP00000383382.2:p.Ser48Leu | |
ENST00000431044.5:c.*1228C>T (SEPTIN5) | ENSP00000399685.1:n.*1228C>T | |
ENST00000455843.5:c.*1228C>T (SEPTIN5) | ENSP00000391731.1:n.*1228C>T | |
ENST00000470814.1:n.2115C>T (SEPTIN5) | ||
NM_000407.4:c.143C>T , LRG_478t1:c.143C>T (GP1BB) | NP_000398.1:p.Ser48Leu | |
NR_037611.1:n.3883C>T | ||
NR_037612.1:n.2387C>T | ||
NM_000407.5:c.143C>T (GP1BB) MANE Select | NP_000398.1:p.Ser48Leu |