Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724063C= , CM000684.2:g.19724063C= | GRCh38 |
| NC_000022.10:g.19711586C= , CM000684.1:g.19711586C= | GRCh37 |
| NC_000022.9:g.18091586C= | NCBI36 |
| NG_007974.1:g.5521C= , LRG_478:g.5521C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.220C= (GP1BB) MANE Select | ENSP00000383382.2:p.Leu74= | |
| ENST00000366425.3:c.220C= (GP1BB) | ENSP00000383382.2:p.Leu74= | |
| ENST00000431044.5:c.*1305C= (SEPTIN5) | ENSP00000399685.1:n.*1305C= | |
| ENST00000455843.5:c.*1305C= (SEPTIN5) | ENSP00000391731.1:n.*1305C= | |
| ENST00000470814.1:n.2192C= (SEPTIN5) | ||
| NM_000407.4:c.220C= , LRG_478t1:c.220C= (GP1BB) | NP_000398.1:p.Leu74= | |
| NR_037611.1:n.3960C= | ||
| NR_037612.1:n.2464C= | ||
| NM_000407.5:c.220C= (GP1BB) MANE Select | NP_000398.1:p.Leu74= |