Linked Data
ClinVar Variation Id:
207561
ClinVar RCV Id:
RCV002492873
dbSNP Id:
rs202189057
ExAC:
11:6638926 A / T
gnomAD v2:
11-6638926-A-T
gnomAD v4:
11-6617695-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617695A>T , CM000673.2:g.6617695A>T | GRCh38 |
| NC_000011.9:g.6638926A>T , CM000673.1:g.6638926A>T | GRCh37 |
| NC_000011.8:g.6595502A>T | NCBI36 |
| NG_008653.1:g.6767T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.197T>A | ENSP00000507321.1:p.Leu66Ter | |
| ENST00000299427.12:c.311T>A MANE Select | ENSP00000299427.6:p.Leu104Ter | |
| ENST00000428886.7:n.399T>A | ||
| ENST00000436873.7:c.115T>A | ||
| ENST00000524788.2:n.1323T>A | ||
| ENST00000524903.2:n.1439T>A | ||
| ENST00000528571.6:c.*51T>A | ENSP00000434647.1:n.*51T>A | |
| ENST00000530040.2:n.340T>A | ||
| ENST00000533371.6:c.-419T>A | ENSP00000437066.1:n.-419T>A | |
| ENST00000534644.6:n.312T>A | ||
| ENST00000642892.1:c.-366T>A | ENSP00000494165.1:n.-366T>A | |
| ENST00000643439.1:c.*51T>A | ENSP00000495849.1:n.*51T>A | |
| ENST00000643479.1:n.340T>A | ||
| ENST00000643516.1:c.198T>A | ||
| ENST00000644151.1:n.1603T>A | ||
| ENST00000644218.1:c.311T>A | ENSP00000493574.1:p.Leu104Ter | |
| ENST00000644683.1:c.311T>A | ENSP00000494085.1:p.Leu104Ter | |
| ENST00000644810.1:c.230-542T>A | ENSP00000495895.1:n.230-542T>A | |
| ENST00000644831.1:n.340T>A | ||
| ENST00000644933.1:c.-419T>A | ENSP00000496133.1:n.-419T>A | |
| ENST00000645020.1:n.1339T>A | ||
| ENST00000645285.1:c.-419T>A | ENSP00000495058.1:n.-419T>A | |
| ENST00000645331.1:n.333T>A | ||
| ENST00000645620.1:c.-361T>A | ENSP00000493657.1:n.-361T>A | |
| ENST00000646777.1:n.340T>A | ||
| ENST00000647016.1:n.644T>A | ||
| ENST00000647152.1:c.-419T>A | ENSP00000495893.1:n.-419T>A | |
| ENST00000647209.1:c.*180T>A | ENSP00000495558.1:n.*180T>A | |
| ENST00000647346.1:n.1331T>A | ||
| ENST00000299427.10:c.311T>A | ENSP00000299427.6:p.Leu104Ter | |
| ENST00000428886.6:n.333T>A | ||
| ENST00000436873.6:c.311T>A | ENSP00000398136.2:p.Leu104Ter | |
| ENST00000528571.5:c.*51T>A | ENSP00000434647.1:n.*51T>A | |
| ENST00000530040.1:n.423T>A | ||
| ENST00000533371.5:c.-419T>A | ENSP00000437066.1:n.-419T>A | |
| ENST00000534644.5:n.296T>A | ||
| ENST00000611494.4:c.311T>A | ENSP00000484546.1:p.Leu104Ter | |
| NM_000391.3:c.311T>A | NP_000382.3:p.Leu104Ter | |
| NM_000391.4:c.311T>A MANE Select | NP_000382.3:p.Leu104Ter |