Linked Data
ClinVar Variation Id:
2749001
ClinVar RCV Id:
RCV003566260
dbSNP Id:
rs751884690
ExAC:
1:150772004 A / G
gnomAD v2:
1-150772004-A-G
gnomAD v4:
1-150799528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799528A>G , CM000663.2:g.150799528A>G | GRCh38 |
| NC_000001.10:g.150772004A>G , CM000663.1:g.150772004A>G | GRCh37 |
| NC_000001.9:g.149038628A>G | NCBI36 |
| NG_011848.1:g.13809T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.784+16T>C MANE Select | ENSP00000271651.3:n.784+16T>C | |
| ENST00000443913.2:c.961+16T>C | ENSP00000405083.2:n.961+16T>C | |
| ENST00000480670.2:n.3853+16T>C | ||
| ENST00000676680.1:c.*78+16T>C | ENSP00000503270.1:n.*78+16T>C | |
| ENST00000676716.1:c.661+16T>C | ENSP00000504737.1:n.661+16T>C | |
| ENST00000676751.1:c.784+16T>C | ENSP00000502964.1:n.784+16T>C | |
| ENST00000676824.1:c.784+16T>C | ENSP00000504176.1:n.784+16T>C | |
| ENST00000676966.1:c.784+16T>C | ENSP00000503723.1:n.784+16T>C | |
| ENST00000676970.1:c.784+16T>C | ENSP00000503832.1:n.784+16T>C | |
| ENST00000677330.1:n.2610+16T>C | ||
| ENST00000677611.1:n.636+16T>C | ||
| ENST00000677887.1:c.826+16T>C | ENSP00000503876.1:n.826+16T>C | |
| ENST00000678275.1:c.*676+16T>C | ENSP00000504796.1:n.*676+16T>C | |
| ENST00000678337.1:c.820+16T>C | ENSP00000504759.1:n.820+16T>C | |
| ENST00000678725.1:n.1777T>C | ||
| ENST00000679090.1:n.1385T>C | ||
| ENST00000679148.1:n.3746+16T>C | ||
| ENST00000679171.1:n.3161T>C | ||
| ENST00000679178.1:n.495+16T>C | ||
| ENST00000679260.1:c.565+16T>C | ENSP00000504534.1:n.565+16T>C | |
| ENST00000271651.7:c.784+16T>C | ENSP00000271651.3:n.784+16T>C | |
| NM_000396.3:c.784+16T>C | NP_000387.1:n.784+16T>C | |
| NM_000396.4:c.784+16T>C MANE Select | NP_000387.1:n.784+16T>C |