Linked Data
ClinVar Variation Id:
101216
ClinVar RCV Id:
RCV000087453
dbSNP Id:
rs587779516
PubMed:
PMID:10706896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188992229G>A , CM000664.2:g.188992229G>A | GRCh38 |
| NC_000002.11:g.189856955G>A , CM000664.1:g.189856955G>A | GRCh37 |
| NC_000002.10:g.189565200G>A | NCBI36 |
| NG_007404.1:g.22857G>A , LRG_3:g.22857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.996+1G>A | ENSP00000415346.2:n.996+1G>A | |
| ENST00000304636.9:c.996+1G>A MANE Select | ENSP00000304408.4:n.996+1G>A | |
| ENST00000304636.7:c.996+1G>A | ENSP00000304408.3:n.996+1G>A | |
| ENST00000317840.9:c.996+1G>A | ENSP00000315243.6:n.996+1G>A | |
| ENST00000450867.1:c.94+1G>A | ||
| NM_000090.3:c.996+1G>A , LRG_3t1:c.996+1G>A | NP_000081.1:n.996+1G>A | |
| NM_000090.4:c.996+1G>A MANE Select | NP_000081.2:n.996+1G>A |