Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19723894C>T , CM000684.2:g.19723894C>T | GRCh38 |
| NC_000022.10:g.19711417C>T , CM000684.1:g.19711417C>T | GRCh37 |
| NC_000022.9:g.18091417C>T | NCBI36 |
| NG_007974.1:g.5352C>T , LRG_478:g.5352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.51C>T (GP1BB) MANE Select | ENSP00000383382.2:p.Ala17= | |
| ENST00000366425.3:c.51C>T (GP1BB) | ENSP00000383382.2:p.Ala17= | |
| ENST00000431044.5:c.*1136C>T (SEPTIN5) | ENSP00000399685.1:n.*1136C>T | |
| ENST00000455843.5:c.*1136C>T (SEPTIN5) | ENSP00000391731.1:n.*1136C>T | |
| ENST00000470814.1:n.2023C>T (SEPTIN5) | ||
| NM_000407.4:c.51C>T , LRG_478t1:c.51C>T (GP1BB) | NP_000398.1:p.Ala17= | |
| NR_037611.1:n.3791C>T | ||
| NR_037612.1:n.2295C>T | ||
| NM_000407.5:c.51C>T (GP1BB) MANE Select | NP_000398.1:p.Ala17= |