Linked Data
ClinVar Variation Id:
16456
ClinVar RCV Id:
RCV000017919
dbSNP Id:
rs1555395819
PubMed:
PMID:11702223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446705C>T , CM000677.2:g.48446705C>T | GRCh38 |
| NC_000015.9:g.48738902C>T , CM000677.1:g.48738902C>T | GRCh37 |
| NC_000015.8:g.46526194C>T | NCBI36 |
| NG_008805.2:g.204084G>A , LRG_778:g.204084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5788+1G>A | ENSP00000453958.2:n.5788+1G>A | |
| ENST00000674301.2:c.5788+1G>A | ENSP00000501333.2:n.5788+1G>A | |
| ENST00000684448.1:n.4462+1G>A | ||
| ENST00000316623.10:c.5788+1G>A MANE Select | ENSP00000325527.5:n.5788+1G>A | |
| ENST00000674301.1:c.787+1G>A | ENSP00000501333.1:n.787+1G>A | |
| ENST00000316623.9:c.5788+1G>A | ENSP00000325527.5:n.5788+1G>A | |
| ENST00000537463.6:c.*1551+1G>A | ENSP00000440294.2:n.*1551+1G>A | |
| ENST00000559133.5:c.1095+1G>A | ||
| NM_000138.4:c.5788+1G>A , LRG_778t1:c.5788+1G>A | NP_000129.3:n.5788+1G>A | |
| NM_000138.5:c.5788+1G>A MANE Select | NP_000129.3:n.5788+1G>A |