Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19723990G>A , CM000684.2:g.19723990G>A | GRCh38 |
| NC_000022.10:g.19711513G>A , CM000684.1:g.19711513G>A | GRCh37 |
| NC_000022.9:g.18091513G>A | NCBI36 |
| NG_007974.1:g.5448G>A , LRG_478:g.5448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.147G>A (GP1BB) MANE Select | ENSP00000383382.2:p.Leu49= | |
| ENST00000366425.3:c.147G>A (GP1BB) | ENSP00000383382.2:p.Leu49= | |
| ENST00000431044.5:c.*1232G>A (SEPTIN5) | ENSP00000399685.1:n.*1232G>A | |
| ENST00000455843.5:c.*1232G>A (SEPTIN5) | ENSP00000391731.1:n.*1232G>A | |
| ENST00000470814.1:n.2119G>A (SEPTIN5) | ||
| NM_000407.4:c.147G>A , LRG_478t1:c.147G>A (GP1BB) | NP_000398.1:p.Leu49= | |
| NR_037611.1:n.3887G>A | ||
| NR_037612.1:n.2391G>A | ||
| NM_000407.5:c.147G>A (GP1BB) MANE Select | NP_000398.1:p.Leu49= |