Linked Data
dbSNP Id:
rs758929858
gnomAD v4:
22-19724131-C-G
MyVariant Identifiers:
chr22:g.19711654C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724131C>G , CM000684.2:g.19724131C>G | GRCh38 |
| NC_000022.10:g.19711654C>G , CM000684.1:g.19711654C>G | GRCh37 |
| NC_000022.9:g.18091654C>G | NCBI36 |
| NG_007974.1:g.5589C>G , LRG_478:g.5589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.288C>G (GP1BB) MANE Select | ENSP00000383382.2:p.Arg96= | |
| ENST00000366425.3:c.288C>G (GP1BB) | ENSP00000383382.2:p.Arg96= | |
| ENST00000431044.5:c.*1373C>G (SEPTIN5) | ENSP00000399685.1:n.*1373C>G | |
| ENST00000455843.5:c.*1373C>G (SEPTIN5) | ENSP00000391731.1:n.*1373C>G | |
| ENST00000470814.1:n.2260C>G (SEPTIN5) | ||
| NM_000407.4:c.288C>G , LRG_478t1:c.288C>G (GP1BB) | NP_000398.1:p.Arg96= | |
| NR_037611.1:n.4028C>G | ||
| NR_037612.1:n.2532C>G | ||
| NM_000407.5:c.288C>G (GP1BB) MANE Select | NP_000398.1:p.Arg96= |