Linked Data
ClinVar Variation Id:
199437
ClinVar RCV Id:
RCV000180790
dbSNP Id:
rs796052212
PubMed:
PMID:26046368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202334984C>T , CM000663.2:g.202334984C>T | GRCh38 |
| NC_000001.10:g.202304112C>T , CM000663.1:g.202304112C>T | GRCh37 |
| NC_000001.9:g.200570735C>T | NCBI36 |
| NG_042230.1:g.11983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699423.1:c.179+5G>A | ENSP00000514379.1:n.179+5G>A | |
| ENST00000699424.1:c.179+5G>A | ENSP00000514380.1:n.179+5G>A | |
| ENST00000699425.1:c.170+5G>A | ENSP00000514381.1:n.170+5G>A | |
| ENST00000699426.1:n.883+5G>A | ||
| ENST00000699427.1:n.902+5G>A | ||
| ENST00000699428.1:c.179+5G>A | ENSP00000514382.1:n.179+5G>A | |
| ENST00000699429.1:c.109+662G>A | ENSP00000514383.1:n.109+662G>A | |
| ENST00000460852.2:n.219+658G>A | ||
| ENST00000487227.6:n.329+5G>A | ||
| ENST00000643045.1:c.*39+5G>A | ENSP00000496572.1:n.*39+5G>A | |
| ENST00000646595.1:n.906+5G>A | ||
| ENST00000646651.1:c.179+5G>A MANE Select | ENSP00000494957.1:n.179+5G>A | |
| ENST00000367274.8:c.179+5G>A | ENSP00000356243.4:n.179+5G>A | |
| ENST00000460852.1:n.173+662G>A | ||
| ENST00000487227.5:n.329+5G>A | ||
| NM_001310326.1:c.89+5G>A | NP_001297255.1:n.89+5G>A | |
| NM_014176.3:c.179+5G>A | NP_054895.1:n.179+5G>A | |
| NM_014176.4:c.179+5G>A MANE Select | NP_054895.1:n.179+5G>A | |
| NM_001310326.2:c.89+5G>A | NP_001297255.1:n.89+5G>A |