Linked Data
ClinVar Variation Id:
1094090
ClinVar RCV Id:
RCV001414496
dbSNP Id:
rs774201583
ExAC:
1:150771636 A / C
gnomAD v2:
1-150771636-A-C
gnomAD v4:
1-150799160-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799160A>C , CM000663.2:g.150799160A>C | GRCh38 |
| NC_000001.10:g.150771636A>C , CM000663.1:g.150771636A>C | GRCh37 |
| NC_000001.9:g.149038260A>C | NCBI36 |
| NG_011848.1:g.14177T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.890+8T>G MANE Select | ENSP00000271651.3:n.890+8T>G | |
| ENST00000443913.2:c.1067+8T>G | ENSP00000405083.2:n.1067+8T>G | |
| ENST00000480670.2:n.3959+8T>G | ||
| ENST00000676680.1:c.*184+8T>G | ENSP00000503270.1:n.*184+8T>G | |
| ENST00000676716.1:c.767+8T>G | ENSP00000504737.1:n.767+8T>G | |
| ENST00000676751.1:c.784+384T>G | ENSP00000502964.1:n.784+384T>G | |
| ENST00000676824.1:c.890+8T>G | ENSP00000504176.1:n.890+8T>G | |
| ENST00000676966.1:c.890+8T>G | ENSP00000503723.1:n.890+8T>G | |
| ENST00000676970.1:c.902+8T>G | ENSP00000503832.1:n.902+8T>G | |
| ENST00000677330.1:n.2716+8T>G | ||
| ENST00000677611.1:n.742+8T>G | ||
| ENST00000677887.1:c.932+8T>G | ENSP00000503876.1:n.932+8T>G | |
| ENST00000678275.1:c.*782+8T>G | ENSP00000504796.1:n.*782+8T>G | |
| ENST00000678337.1:c.926+8T>G | ENSP00000504759.1:n.926+8T>G | |
| ENST00000678725.1:n.2137+8T>G | ||
| ENST00000679090.1:n.1745+8T>G | ||
| ENST00000679148.1:n.3852+8T>G | ||
| ENST00000679171.1:n.3521+8T>G | ||
| ENST00000679178.1:n.601+8T>G | ||
| ENST00000679260.1:c.671+8T>G | ENSP00000504534.1:n.671+8T>G | |
| ENST00000271651.7:c.890+8T>G | ENSP00000271651.3:n.890+8T>G | |
| NM_000396.3:c.890+8T>G | NP_000387.1:n.890+8T>G | |
| NM_000396.4:c.890+8T>G MANE Select | NP_000387.1:n.890+8T>G |