Linked Data
ClinVar Variation Id:
1434216
ClinVar RCV Id:
RCV001962388
dbSNP Id:
rs746687764
ExAC:
11:35308410 C / T
gnomAD v2:
11-35308410-C-T
gnomAD v4:
11-35286863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35286863C>T , CM000673.2:g.35286863C>T | GRCh38 |
| NC_000011.9:g.35308410C>T , CM000673.1:g.35308410C>T | GRCh37 |
| NC_000011.8:g.35264986C>T | NCBI36 |
| NG_008727.1:g.137696G>A | |
| NG_008727.2:g.137696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1180G>A MANE Select | ENSP00000278379.3:p.Ala394Thr | |
| ENST00000395750.6:c.1168G>A | ENSP00000379099.2:p.Ala390Thr | |
| ENST00000395753.6:c.1153G>A | ENSP00000379102.1:p.Ala385Thr | |
| ENST00000449068.2:c.1180G>A | ENSP00000406133.2:p.Ala394Thr | |
| ENST00000479543.2:n.732G>A | ||
| ENST00000531628.2:c.1180G>A | ENSP00000436029.2:p.Ala394Thr | |
| ENST00000606205.6:c.1180G>A | ENSP00000476124.2:p.Ala394Thr | |
| ENST00000642171.1:c.1180G>A | ENSP00000495538.1:p.Ala394Thr | |
| ENST00000642183.1:n.1208G>A | ||
| ENST00000642216.1:n.728G>A | ||
| ENST00000642224.1:n.1342G>A | ||
| ENST00000642448.1:n.1272G>A | ||
| ENST00000642578.1:c.1153G>A | ENSP00000494076.1:p.Ala385Thr | |
| ENST00000642769.1:c.446G>A | ||
| ENST00000643000.1:c.1153G>A | ENSP00000495164.1:p.Ala385Thr | |
| ENST00000643134.1:c.1180G>A | ENSP00000495188.1:p.Ala394Thr | |
| ENST00000643305.1:c.1180G>A | ENSP00000494828.1:p.Ala394Thr | |
| ENST00000643454.1:c.1171G>A | ENSP00000495126.1:p.Ala391Thr | |
| ENST00000643522.1:c.946G>A | ENSP00000496375.1:p.Ala316Thr | |
| ENST00000644050.1:c.1153G>A | ENSP00000496123.1:p.Ala385Thr | |
| ENST00000644299.1:c.1153G>A | ENSP00000494669.1:p.Ala385Thr | |
| ENST00000644351.1:c.1180G>A | ENSP00000496587.1:p.Ala394Thr | |
| ENST00000644459.1:c.1180G>A | ENSP00000495861.1:p.Ala394Thr | |
| ENST00000644779.1:c.1291G>A | ENSP00000494258.1:p.Ala431Thr | |
| ENST00000644868.1:c.1171G>A | ENSP00000496760.1:p.Ala391Thr | |
| ENST00000645194.1:c.1153G>A | ENSP00000496093.1:p.Ala385Thr | |
| ENST00000645303.1:c.1195G>A | ENSP00000496667.1:p.Ala399Thr | |
| ENST00000645634.1:c.1153G>A | ENSP00000493945.1:p.Ala385Thr | |
| ENST00000645892.1:n.1285G>A | ||
| ENST00000646080.1:c.1171G>A | ENSP00000494113.1:p.Ala391Thr | |
| ENST00000646099.1:c.1168G>A | ENSP00000495799.1:p.Ala390Thr | |
| ENST00000646167.1:c.796G>A | ENSP00000495246.1:p.Ala266Thr | |
| ENST00000646585.1:n.1335G>A | ||
| ENST00000646847.1:c.1180G>A | ENSP00000493924.1:p.Ala394Thr | |
| ENST00000647076.1:c.56G>A | ||
| ENST00000647104.1:c.1153G>A | ENSP00000494025.1:p.Ala385Thr | |
| ENST00000647193.1:n.306G>A | ||
| ENST00000647372.1:c.1153G>A | ENSP00000495277.1:p.Ala385Thr | |
| ENST00000278379.7:c.1180G>A | ENSP00000278379.3:p.Ala394Thr | |
| ENST00000395750.5:c.1153G>A | ENSP00000379099.1:p.Ala385Thr | |
| ENST00000395753.5:c.1153G>A | ENSP00000379102.1:p.Ala385Thr | |
| ENST00000531628.1:c.333G>A | ||
| ENST00000606205.5:c.1180G>A | ENSP00000476124.1:p.Ala394Thr | |
| NM_001195728.2:c.1153G>A | NP_001182657.1:p.Ala385Thr | |
| NM_001252652.1:c.1153G>A | NP_001239581.1:p.Ala385Thr | |
| NM_004171.3:c.1180G>A | NP_004162.2:p.Ala394Thr | |
| XM_005253067.1:c.1171G>A | XP_005253124.1:p.Ala391Thr | |
| XM_011520284.1:c.1228G>A | XP_011518586.1:p.Ala410Thr | |
| XM_011520285.1:c.1168G>A | XP_011518587.1:p.Ala390Thr | |
| XM_011520286.1:c.1228G>A | XP_011518588.1:p.Ala410Thr | |
| XM_011520287.1:c.994G>A | XP_011518589.1:p.Ala332Thr | |
| XM_011520285.2:c.1168G>A | XP_011518587.1:p.Ala390Thr | |
| XM_017018136.1:c.1195G>A | XP_016873625.1:p.Ala399Thr | |
| XM_017018137.1:c.1153G>A | XP_016873626.1:p.Ala385Thr | |
| XM_017018138.1:c.1153G>A | XP_016873627.1:p.Ala385Thr | |
| XM_017018139.1:c.946G>A | XP_016873628.1:p.Ala316Thr | |
| NM_004171.4:c.1180G>A MANE Select | NP_004162.2:p.Ala394Thr | |
| NM_001195728.3:c.1153G>A | NP_001182657.1:p.Ala385Thr | |
| NM_001252652.2:c.1153G>A | NP_001239581.1:p.Ala385Thr |