Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19723410C>G , CM000684.2:g.19723410C>G | GRCh38 |
| NC_000022.10:g.19710933C>G , CM000684.1:g.19710933C>G | GRCh37 |
| NC_000022.9:g.18090933C>G | NCBI36 |
| NG_007974.1:g.4868C>G , LRG_478:g.4868C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.3:c.-160C>G (GP1BB) | ENSP00000383382.2:n.-160C>G | |
| ENST00000431044.5:c.*926C>G (SEPTIN5) | ENSP00000399685.1:n.*926C>G | |
| ENST00000455843.5:c.*926C>G (SEPTIN5) | ENSP00000391731.1:n.*926C>G | |
| ENST00000470814.1:n.1813C>G (SEPTIN5) | ||
| NR_037611.1:n.3581C>G | ||
| NR_037612.1:n.2085C>G |