HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724122C>A , CM000684.2:g.19724122C>A | GRCh38 |
NC_000022.10:g.19711645C>A , CM000684.1:g.19711645C>A | GRCh37 |
NC_000022.9:g.18091645C>A | NCBI36 |
NG_007974.1:g.5580C>A , LRG_478:g.5580C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.279C>A (GP1BB) MANE Select | ENSP00000383382.2:p.Cys93Ter | |
ENST00000366425.3:c.279C>A (GP1BB) | ENSP00000383382.2:p.Cys93Ter | |
ENST00000431044.5:c.*1364C>A (SEPTIN5) | ENSP00000399685.1:n.*1364C>A | |
ENST00000455843.5:c.*1364C>A (SEPTIN5) | ENSP00000391731.1:n.*1364C>A | |
ENST00000470814.1:n.2251C>A (SEPTIN5) | ||
NM_000407.4:c.279C>A , LRG_478t1:c.279C>A (GP1BB) | NP_000398.1:p.Cys93Ter | |
NR_037611.1:n.4019C>A | ||
NR_037612.1:n.2523C>A | ||
NM_000407.5:c.279C>A (GP1BB) MANE Select | NP_000398.1:p.Cys93Ter |