HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724288G>C , CM000684.2:g.19724288G>C | GRCh38 |
NC_000022.10:g.19711811G>C , CM000684.1:g.19711811G>C | GRCh37 |
NC_000022.9:g.18091811G>C | NCBI36 |
NG_007974.1:g.5746G>C , LRG_478:g.5746G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.445G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Gly149Arg | |
ENST00000366425.3:c.445G>C (GP1BB) | ENSP00000383382.2:p.Gly149Arg | |
ENST00000431044.5:c.*1530G>C (SEPTIN5) | ENSP00000399685.1:n.*1530G>C | |
NM_000407.4:c.445G>C , LRG_478t1:c.445G>C (GP1BB) | NP_000398.1:p.Gly149Arg | |
NR_037611.1:n.4185G>C | ||
NR_037612.1:n.2689G>C | ||
NM_000407.5:c.445G>C (GP1BB) MANE Select | NP_000398.1:p.Gly149Arg |