Linked Data
ClinVar Variation Id:
1701430
ClinVar RCV Id:
RCV002276433
dbSNP Id:
rs2145796172
gnomAD v4:
22-19724124-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724124A>G , CM000684.2:g.19724124A>G | GRCh38 |
| NC_000022.10:g.19711647A>G , CM000684.1:g.19711647A>G | GRCh37 |
| NC_000022.9:g.18091647A>G | NCBI36 |
| NG_007974.1:g.5582A>G , LRG_478:g.5582A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.281A>G (GP1BB) MANE Select | ENSP00000383382.2:p.Asp94Gly | |
| ENST00000366425.3:c.281A>G (GP1BB) | ENSP00000383382.2:p.Asp94Gly | |
| ENST00000431044.5:c.*1366A>G (SEPTIN5) | ENSP00000399685.1:n.*1366A>G | |
| ENST00000455843.5:c.*1366A>G (SEPTIN5) | ENSP00000391731.1:n.*1366A>G | |
| ENST00000470814.1:n.2253A>G (SEPTIN5) | ||
| NM_000407.4:c.281A>G , LRG_478t1:c.281A>G (GP1BB) | NP_000398.1:p.Asp94Gly | |
| NR_037611.1:n.4021A>G | ||
| NR_037612.1:n.2525A>G | ||
| NM_000407.5:c.281A>G (GP1BB) MANE Select | NP_000398.1:p.Asp94Gly |