HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724072G>C , CM000684.2:g.19724072G>C | GRCh38 |
NC_000022.10:g.19711595G>C , CM000684.1:g.19711595G>C | GRCh37 |
NC_000022.9:g.18091595G>C | NCBI36 |
NG_007974.1:g.5530G>C , LRG_478:g.5530G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.229G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Ala77Pro | |
ENST00000366425.3:c.229G>C (GP1BB) | ENSP00000383382.2:p.Ala77Pro | |
ENST00000431044.5:c.*1314G>C (SEPTIN5) | ENSP00000399685.1:n.*1314G>C | |
ENST00000455843.5:c.*1314G>C (SEPTIN5) | ENSP00000391731.1:n.*1314G>C | |
ENST00000470814.1:n.2201G>C (SEPTIN5) | ||
NM_000407.4:c.229G>C , LRG_478t1:c.229G>C (GP1BB) | NP_000398.1:p.Ala77Pro | |
NR_037611.1:n.3969G>C | ||
NR_037612.1:n.2473G>C | ||
NM_000407.5:c.229G>C (GP1BB) MANE Select | NP_000398.1:p.Ala77Pro |