Linked Data
ClinVar Variation Id:
1338344
ClinVar RCV Id:
RCV001817715
dbSNP Id:
rs1013880318
gnomAD v3:
22-19724139-C-T
gnomAD v4:
22-19724139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724139C>T , CM000684.2:g.19724139C>T | GRCh38 |
| NC_000022.10:g.19711662C>T , CM000684.1:g.19711662C>T | GRCh37 |
| NC_000022.9:g.18091662C>T | NCBI36 |
| NG_007974.1:g.5597C>T , LRG_478:g.5597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.296C>T (GP1BB) MANE Select | ENSP00000383382.2:p.Pro99Leu | |
| ENST00000366425.3:c.296C>T (GP1BB) | ENSP00000383382.2:p.Pro99Leu | |
| ENST00000431044.5:c.*1381C>T (SEPTIN5) | ENSP00000399685.1:n.*1381C>T | |
| ENST00000455843.5:c.*1381C>T (SEPTIN5) | ENSP00000391731.1:n.*1381C>T | |
| ENST00000470814.1:n.2268C>T (SEPTIN5) | ||
| NM_000407.4:c.296C>T , LRG_478t1:c.296C>T (GP1BB) | NP_000398.1:p.Pro99Leu | |
| NR_037611.1:n.4036C>T | ||
| NR_037612.1:n.2540C>T | ||
| NM_000407.5:c.296C>T (GP1BB) MANE Select | NP_000398.1:p.Pro99Leu |