Linked Data
ClinVar Variation Id:
167592
dbSNP Id:
rs143720091
ExAC:
10:86017767 A / G
gnomAD v2:
10-86017767-A-G
gnomAD v3:
10-84258011-A-G
gnomAD v4:
10-84258011-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84258011A>G , CM000672.2:g.84258011A>G | GRCh38 |
| NC_000010.10:g.86017767A>G , CM000672.1:g.86017767A>G | GRCh37 |
| NC_000010.9:g.86007747A>G | NCBI36 |
| NG_009106.1:g.17959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358110.7:c.631-497A>G | ENSP00000350823.5:n.631-497A>G | |
| ENST00000359452.9:c.756+5A>G | ENSP00000352427.4:n.756+5A>G | |
| ENST00000478727.6:c.*702-497A>G | ENSP00000498966.1:n.*702-497A>G | |
| ENST00000650682.1:c.94-497A>G | ENSP00000498223.1:n.94-497A>G | |
| ENST00000650774.1:c.*269-497A>G | ENSP00000498908.1:n.*269-497A>G | |
| ENST00000651155.1:c.*354+5A>G | ENSP00000499193.1:n.*354+5A>G | |
| ENST00000651237.1:c.207+5A>G | ENSP00000498404.1:n.207+5A>G | |
| ENST00000652073.1:c.207+5A>G | ENSP00000498800.1:n.207+5A>G | |
| ENST00000652092.2:c.744+5A>G MANE Select | ENSP00000498299.1:n.744+5A>G | |
| ENST00000652122.1:c.801+5A>G | ENSP00000498917.1:n.801+5A>G | |
| ENST00000652310.1:c.*930+5A>G | ENSP00000498927.1:n.*930+5A>G | |
| ENST00000358110.6:c.631-497A>G | ENSP00000350823.5:n.631-497A>G | |
| ENST00000359452.8:c.756+5A>G | ENSP00000352427.4:n.756+5A>G | |
| ENST00000478727.5:n.669-497A>G | ||
| ENST00000479725.1:n.339+5A>G | ||
| ENST00000483660.5:n.615+5A>G | ||
| ENST00000483771.5:n.1870+5A>G | ||
| NM_001012720.1:c.744+5A>G | NP_001012738.1:n.744+5A>G | |
| NM_001012722.1:c.631-497A>G | NP_001012740.1:n.631-497A>G | |
| NM_002921.3:c.756+5A>G | NP_002912.2:n.756+5A>G | |
| XM_011540028.1:c.658-497A>G | XP_011538330.1:n.658-497A>G | |
| XR_002957005.1:n.2352+5A>G | ||
| NM_001012720.2:c.744+5A>G MANE Select | NP_001012738.1:n.744+5A>G | |
| NM_001012722.2:c.631-497A>G | NP_001012740.1:n.631-497A>G | |
| NM_002921.4:c.756+5A>G | NP_002912.2:n.756+5A>G |