Linked Data
ClinVar Variation Id:
843687
ClinVar RCV Id:
RCV001046363
dbSNP Id:
rs77761572
gnomAD v2:
22-19711478-G-C
gnomAD v3:
22-19723955-G-C
gnomAD v4:
22-19723955-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19723955G>C , CM000684.2:g.19723955G>C | GRCh38 |
| NC_000022.10:g.19711478G>C , CM000684.1:g.19711478G>C | GRCh37 |
| NC_000022.9:g.18091478G>C | NCBI36 |
| NG_007974.1:g.5413G>C , LRG_478:g.5413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.112G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Asp38His | |
| ENST00000366425.3:c.112G>C (GP1BB) | ENSP00000383382.2:p.Asp38His | |
| ENST00000431044.5:c.*1197G>C (SEPTIN5) | ENSP00000399685.1:n.*1197G>C | |
| ENST00000455843.5:c.*1197G>C (SEPTIN5) | ENSP00000391731.1:n.*1197G>C | |
| ENST00000470814.1:n.2084G>C (SEPTIN5) | ||
| NM_000407.4:c.112G>C , LRG_478t1:c.112G>C (GP1BB) | NP_000398.1:p.Asp38His | |
| NR_037611.1:n.3852G>C | ||
| NR_037612.1:n.2356G>C | ||
| NM_000407.5:c.112G>C (GP1BB) MANE Select | NP_000398.1:p.Asp38His |