Linked Data
ClinVar Variation Id:
12145
dbSNP Id:
rs587777829
ExAC:
11:66282150 G / A
gnomAD v2:
11-66282150-G-A
gnomAD v4:
11-66514679-G-A
PubMed:
PMID:12118255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514679G>A , CM000673.2:g.66514679G>A | GRCh38 |
| NC_000011.9:g.66282150G>A , CM000673.1:g.66282150G>A | GRCh37 |
| NC_000011.8:g.66038726G>A | NCBI36 |
| NG_009093.1:g.9032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.432+1G>A MANE Select | ENSP00000317469.7:n.432+1G>A | |
| ENST00000318312.11:c.432+1G>A | ENSP00000317469.7:n.432+1G>A | |
| ENST00000393994.4:c.432+1G>A | ENSP00000377563.2:n.432+1G>A | |
| ENST00000419755.3:c.543+1G>A | ENSP00000398526.3:n.543+1G>A | |
| ENST00000455748.6:c.432+1G>A | ENSP00000405764.2:n.432+1G>A | |
| ENST00000524458.5:c.*139+1G>A | ENSP00000436195.1:n.*139+1G>A | |
| ENST00000524705.2:c.153+1G>A | ENSP00000436927.1:n.153+1G>A | |
| ENST00000524907.5:n.422+1G>A | ||
| ENST00000525809.5:c.160-861G>A | ENSP00000431187.1:n.160-861G>A | |
| ENST00000526035.5:c.*139+1G>A | ENSP00000434197.1:n.*139+1G>A | |
| ENST00000526760.5:c.*139+1G>A | ENSP00000432140.1:n.*139+1G>A | |
| ENST00000527251.5:c.*139+1G>A | ENSP00000434360.1:n.*139+1G>A | |
| ENST00000529766.5:n.439+1G>A | ||
| ENST00000529953.5:n.84+1G>A | ||
| ENST00000529955.5:n.450+1G>A | ||
| ENST00000532908.5:c.*139+1G>A | ENSP00000431866.1:n.*139+1G>A | |
| ENST00000533430.5:n.210+1G>A | ||
| ENST00000533557.5:c.*139+1G>A | ENSP00000434619.1:n.*139+1G>A | |
| ENST00000533644.5:c.432+1G>A | ENSP00000436073.1:n.432+1G>A | |
| ENST00000534730.5:n.444+1G>A | ||
| ENST00000630659.2:c.*139+1G>A | ENSP00000486455.1:n.*139+1G>A | |
| NM_024649.4:c.432+1G>A | NP_078925.3:n.432+1G>A | |
| NM_024649.5:c.432+1G>A MANE Select | NP_078925.3:n.432+1G>A |