Linked Data
ClinVar Variation Id:
1409673
ClinVar RCV Id:
RCV001913852
dbSNP Id:
rs1332783199
gnomAD v2:
1-150771738-C-A
gnomAD v3:
1-150799262-C-A
gnomAD v4:
1-150799262-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799262C>A , CM000663.2:g.150799262C>A | GRCh38 |
| NC_000001.10:g.150771738C>A , CM000663.1:g.150771738C>A | GRCh37 |
| NC_000001.9:g.149038362C>A | NCBI36 |
| NG_011848.1:g.14075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.796G>T MANE Select | ENSP00000271651.3:p.Asp266Tyr | |
| ENST00000443913.2:c.973G>T | ENSP00000405083.2:p.Asp325Tyr | |
| ENST00000480670.2:n.3865G>T | ||
| ENST00000676680.1:c.*90G>T | ENSP00000503270.1:n.*90G>T | |
| ENST00000676716.1:c.673G>T | ENSP00000504737.1:p.Asp225Tyr | |
| ENST00000676751.1:c.784+282G>T | ENSP00000502964.1:n.784+282G>T | |
| ENST00000676824.1:c.796G>T | ENSP00000504176.1:p.Asp266Tyr | |
| ENST00000676966.1:c.796G>T | ENSP00000503723.1:p.Asp266Tyr | |
| ENST00000676970.1:c.808G>T | ENSP00000503832.1:p.Asp270Tyr | |
| ENST00000677330.1:n.2622G>T | ||
| ENST00000677611.1:n.648G>T | ||
| ENST00000677887.1:c.838G>T | ENSP00000503876.1:p.Asp280Tyr | |
| ENST00000678275.1:c.*688G>T | ENSP00000504796.1:n.*688G>T | |
| ENST00000678337.1:c.832G>T | ENSP00000504759.1:p.Asp278Tyr | |
| ENST00000678725.1:n.2043G>T | ||
| ENST00000679090.1:n.1651G>T | ||
| ENST00000679148.1:n.3758G>T | ||
| ENST00000679171.1:n.3427G>T | ||
| ENST00000679178.1:n.507G>T | ||
| ENST00000679260.1:c.577G>T | ENSP00000504534.1:p.Asp193Tyr | |
| ENST00000271651.7:c.796G>T | ENSP00000271651.3:p.Asp266Tyr | |
| NM_000396.3:c.796G>T | NP_000387.1:p.Asp266Tyr | |
| NM_000396.4:c.796G>T MANE Select | NP_000387.1:p.Asp266Tyr |