Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724353G>C , CM000684.2:g.19724353G>C | GRCh38 |
| NC_000022.10:g.19711876G>C , CM000684.1:g.19711876G>C | GRCh37 |
| NC_000022.9:g.18091876G>C | NCBI36 |
| NG_007974.1:g.5811G>C , LRG_478:g.5811G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.510G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Leu170= | |
| ENST00000366425.3:c.510G>C (GP1BB) | ENSP00000383382.2:p.Leu170= | |
| ENST00000431044.5:c.*1595G>C (SEPTIN5) | ENSP00000399685.1:n.*1595G>C | |
| NM_000407.4:c.510G>C , LRG_478t1:c.510G>C (GP1BB) | NP_000398.1:p.Leu170= | |
| NR_037611.1:n.4250G>C | ||
| NR_037612.1:n.2754G>C | ||
| NM_000407.5:c.510G>C (GP1BB) MANE Select | NP_000398.1:p.Leu170= |