Linked Data
ClinVar Variation Id:
370345
dbSNP Id:
rs780202604
ExAC:
1:150778608 A / T
gnomAD v2:
1-150778608-A-T
gnomAD v4:
1-150806132-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806132A>T , CM000663.2:g.150806132A>T | GRCh38 |
| NC_000001.10:g.150778608A>T , CM000663.1:g.150778608A>T | GRCh37 |
| NC_000001.9:g.149045232A>T | NCBI36 |
| NG_011848.1:g.7205T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.213T>A MANE Select | ENSP00000271651.3:p.Tyr71Ter | |
| ENST00000443913.2:c.390T>A | ENSP00000405083.2:p.Tyr130Ter | |
| ENST00000480670.2:n.3282T>A | ||
| ENST00000676680.1:c.213T>A | ENSP00000503270.1:p.Tyr71Ter | |
| ENST00000676716.1:c.121-116T>A | ENSP00000504737.1:n.121-116T>A | |
| ENST00000676751.1:c.213T>A | ENSP00000502964.1:p.Tyr71Ter | |
| ENST00000676824.1:c.213T>A | ENSP00000504176.1:p.Tyr71Ter | |
| ENST00000676966.1:c.213T>A | ENSP00000503723.1:p.Tyr71Ter | |
| ENST00000676970.1:c.213T>A | ENSP00000503832.1:p.Tyr71Ter | |
| ENST00000677330.1:n.2039T>A | ||
| ENST00000677887.1:c.255T>A | ENSP00000503876.1:p.Tyr85Ter | |
| ENST00000678275.1:c.*105T>A | ENSP00000504796.1:n.*105T>A | |
| ENST00000678337.1:c.249T>A | ENSP00000504759.1:p.Tyr83Ter | |
| ENST00000678725.1:n.1190T>A | ||
| ENST00000679090.1:n.798T>A | ||
| ENST00000679148.1:n.1554T>A | ||
| ENST00000679171.1:n.2574T>A | ||
| ENST00000679260.1:c.213T>A | ENSP00000504534.1:p.Tyr71Ter | |
| ENST00000271651.7:c.213T>A | ENSP00000271651.3:p.Tyr71Ter | |
| ENST00000443913.1:c.390T>A | ENSP00000405083.1:p.Tyr130Ter | |
| ENST00000480670.1:n.84-116T>A | ||
| NM_000396.3:c.213T>A | NP_000387.1:p.Tyr71Ter | |
| NM_000396.4:c.213T>A MANE Select | NP_000387.1:p.Tyr71Ter |