HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19723985T>G , CM000684.2:g.19723985T>G | GRCh38 |
NC_000022.10:g.19711508T>G , CM000684.1:g.19711508T>G | GRCh37 |
NC_000022.9:g.18091508T>G | NCBI36 |
NG_007974.1:g.5443T>G , LRG_478:g.5443T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.142T>G (GP1BB) MANE Select | ENSP00000383382.2:p.Ser48Ala | |
ENST00000366425.3:c.142T>G (GP1BB) | ENSP00000383382.2:p.Ser48Ala | |
ENST00000431044.5:c.*1227T>G (SEPTIN5) | ENSP00000399685.1:n.*1227T>G | |
ENST00000455843.5:c.*1227T>G (SEPTIN5) | ENSP00000391731.1:n.*1227T>G | |
ENST00000470814.1:n.2114T>G (SEPTIN5) | ||
NM_000407.4:c.142T>G , LRG_478t1:c.142T>G (GP1BB) | NP_000398.1:p.Ser48Ala | |
NR_037611.1:n.3882T>G | ||
NR_037612.1:n.2386T>G | ||
NM_000407.5:c.142T>G (GP1BB) MANE Select | NP_000398.1:p.Ser48Ala |