Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724240G>C , CM000684.2:g.19724240G>C | GRCh38 |
| NC_000022.10:g.19711763G>C , CM000684.1:g.19711763G>C | GRCh37 |
| NC_000022.9:g.18091763G>C | NCBI36 |
| NG_007974.1:g.5698G>C , LRG_478:g.5698G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000407.5:c.397G>C (GP1BB) MANE Select | NP_000398.1:p.Ala133Pro |
| ENST00000366425.4:c.397G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Ala133Pro |
| NM_000407.4:c.397G>C , LRG_478t1:c.397G>C (GP1BB) | NP_000398.1:p.Ala133Pro |
| NR_037611.1:n.4137G>C | |
| NR_037612.1:n.2641G>C | |
| ENST00000366425.3:c.397G>C (GP1BB) | ENSP00000383382.2:p.Ala133Pro |
| ENST00000431044.5:c.*1482G>C (SEPTIN5) | ENSP00000399685.1:n.*1482G>C |