Linked Data
ClinVar Variation Id:
224354
dbSNP Id:
rs140638866
ExAC:
10:43604616 A / T
gnomAD v2:
10-43604616-A-T
gnomAD v3:
10-43109168-A-T
gnomAD v4:
10-43109168-A-T
PubMed:
PMID:27657687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43109168A>T , CM000672.2:g.43109168A>T | GRCh38 |
| NC_000010.10:g.43604616A>T , CM000672.1:g.43604616A>T | GRCh37 |
| NC_000010.9:g.42924622A>T | NCBI36 |
| NG_007489.1:g.37100A>T , LRG_518:g.37100A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.868-2039A>T | ENSP00000480088.2:n.868-2039A>T | |
| ENST00000683007.1:n.775A>T | ||
| ENST00000340058.6:c.1201A>T | ENSP00000344798.4:p.Ser401Cys | |
| ENST00000355710.8:c.1201A>T MANE Select | ENSP00000347942.3:p.Ser401Cys | |
| ENST00000671844.1:c.626-2039A>T | ENSP00000500541.1:n.626-2039A>T | |
| ENST00000672389.1:c.74-2039A>T | ENSP00000500252.1:n.74-2039A>T | |
| ENST00000340058.5:c.1201A>T | ENSP00000344798.4:p.Ser401Cys | |
| ENST00000355710.7:c.1201A>T | ENSP00000347942.3:p.Ser401Cys | |
| ENST00000498820.5:c.74-2931A>T | ENSP00000419080.1:n.74-2931A>T | |
| ENST00000615310.4:c.1201A>T | ENSP00000480088.1:p.Ser401Cys | |
| NM_020630.4:c.1201A>T , LRG_518t2:c.1201A>T | NP_065681.1:p.Ser401Cys | |
| NM_020975.4:c.1201A>T , LRG_518t1:c.1201A>T | NP_066124.1:p.Ser401Cys | |
| XM_011540027.1:c.1201A>T | XP_011538329.1:p.Ser401Cys | |
| NM_001355216.1:c.439A>T | NP_001342145.1:p.Ser147Cys | |
| NM_020630.5:c.1201A>T | NP_065681.1:p.Ser401Cys | |
| NM_020975.5:c.1201A>T | NP_066124.1:p.Ser401Cys | |
| NM_020975.6:c.1201A>T MANE Select | NP_066124.1:p.Ser401Cys | |
| NM_020630.6:c.1201A>T | NP_065681.1:p.Ser401Cys |