Linked Data
ClinVar Variation Id:
36095
ClinVar RCV Id:
RCV000029757
dbSNP Id:
rs193922219
PubMed:
PMID:18435798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446701C>A , CM000677.2:g.48446701C>A | GRCh38 |
| NC_000015.9:g.48738898C>A , CM000677.1:g.48738898C>A | GRCh37 |
| NC_000015.8:g.46526190C>A | NCBI36 |
| NG_008805.2:g.204088G>T , LRG_778:g.204088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5788+5G>T | ENSP00000453958.2:n.5788+5G>T | |
| ENST00000674301.2:c.5788+5G>T | ENSP00000501333.2:n.5788+5G>T | |
| ENST00000684448.1:n.4462+5G>T | ||
| ENST00000316623.10:c.5788+5G>T MANE Select | ENSP00000325527.5:n.5788+5G>T | |
| ENST00000674301.1:c.787+5G>T | ENSP00000501333.1:n.787+5G>T | |
| ENST00000316623.9:c.5788+5G>T | ENSP00000325527.5:n.5788+5G>T | |
| ENST00000537463.6:c.*1551+5G>T | ENSP00000440294.2:n.*1551+5G>T | |
| ENST00000559133.5:c.1095+5G>T | ||
| NM_000138.4:c.5788+5G>T , LRG_778t1:c.5788+5G>T | NP_000129.3:n.5788+5G>T | |
| NM_000138.5:c.5788+5G>T MANE Select | NP_000129.3:n.5788+5G>T |