Linked Data
ClinVar Variation Id:
241336
ClinVar RCV Id:
RCV000234316
RCV001011698
RCV001107800
RCV001107138
RCV000709111
RCV001107139
RCV001770206
RCV001107140
dbSNP Id:
rs753733901
ExAC:
10:43606853 A / T
gnomAD v2:
10-43606853-A-T
gnomAD v3:
10-43111405-A-T
gnomAD v4:
10-43111405-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111405A>T , CM000672.2:g.43111405A>T | GRCh38 |
| NC_000010.10:g.43606853A>T , CM000672.1:g.43606853A>T | GRCh37 |
| NC_000010.9:g.42926859A>T | NCBI36 |
| NG_007489.1:g.39337A>T , LRG_518:g.39337A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1066A>T | ENSP00000480088.2:p.Thr356Ser | |
| ENST00000683007.1:n.1036A>T | ||
| ENST00000683872.1:n.223A>T | ||
| ENST00000340058.6:c.1462A>T | ENSP00000344798.4:p.Thr488Ser | |
| ENST00000355710.8:c.1462A>T MANE Select | ENSP00000347942.3:p.Thr488Ser | |
| ENST00000671844.1:c.*56A>T | ENSP00000500541.1:n.*56A>T | |
| ENST00000672389.1:c.*56A>T | ENSP00000500252.1:n.*56A>T | |
| ENST00000340058.5:c.1462A>T | ENSP00000344798.4:p.Thr488Ser | |
| ENST00000355710.7:c.1462A>T | ENSP00000347942.3:p.Thr488Ser | |
| ENST00000498820.5:c.74-694A>T | ENSP00000419080.1:n.74-694A>T | |
| ENST00000615310.4:c.1289+173A>T | ENSP00000480088.1:n.1289+173A>T | |
| NM_020630.4:c.1462A>T , LRG_518t2:c.1462A>T | NP_065681.1:p.Thr488Ser | |
| NM_020975.4:c.1462A>T , LRG_518t1:c.1462A>T | NP_066124.1:p.Thr488Ser | |
| XM_011540027.1:c.1462A>T | XP_011538329.1:p.Thr488Ser | |
| NM_001355216.1:c.700A>T | NP_001342145.1:p.Thr234Ser | |
| NM_020630.5:c.1462A>T | NP_065681.1:p.Thr488Ser | |
| NM_020975.5:c.1462A>T | NP_066124.1:p.Thr488Ser | |
| NM_020975.6:c.1462A>T MANE Select | NP_066124.1:p.Thr488Ser | |
| NM_020630.6:c.1462A>T | NP_065681.1:p.Thr488Ser |