HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724309G>A , CM000684.2:g.19724309G>A | GRCh38 |
NC_000022.10:g.19711832G>A , CM000684.1:g.19711832G>A | GRCh37 |
NC_000022.9:g.18091832G>A | NCBI36 |
NG_007974.1:g.5767G>A , LRG_478:g.5767G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.466G>A (GP1BB) MANE Select | ENSP00000383382.2:p.Ala156Thr | |
ENST00000366425.3:c.466G>A (GP1BB) | ENSP00000383382.2:p.Ala156Thr | |
ENST00000431044.5:c.*1551G>A (SEPTIN5) | ENSP00000399685.1:n.*1551G>A | |
NM_000407.4:c.466G>A , LRG_478t1:c.466G>A (GP1BB) | NP_000398.1:p.Ala156Thr | |
NR_037611.1:n.4206G>A | ||
NR_037612.1:n.2710G>A | ||
NM_000407.5:c.466G>A (GP1BB) MANE Select | NP_000398.1:p.Ala156Thr |