Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724235A>G , CM000684.2:g.19724235A>G | GRCh38 |
| NC_000022.10:g.19711758A>G , CM000684.1:g.19711758A>G | GRCh37 |
| NC_000022.9:g.18091758A>G | NCBI36 |
| NG_007974.1:g.5693A>G , LRG_478:g.5693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.392A>G (GP1BB) MANE Select | ENSP00000383382.2:p.Tyr131Cys | |
| ENST00000366425.3:c.392A>G (GP1BB) | ENSP00000383382.2:p.Tyr131Cys | |
| ENST00000431044.5:c.*1477A>G (SEPTIN5) | ENSP00000399685.1:n.*1477A>G | |
| NM_000407.4:c.392A>G , LRG_478t1:c.392A>G (GP1BB) | NP_000398.1:p.Tyr131Cys | |
| NR_037611.1:n.4132A>G | ||
| NR_037612.1:n.2636A>G | ||
| NM_000407.5:c.392A>G (GP1BB) MANE Select | NP_000398.1:p.Tyr131Cys |