Linked Data
ClinVar Variation Id:
215909
ClinVar RCV Id:
RCV000197302
RCV000506065
RCV001013471
RCV001102658
RCV001102660
RCV001102657
RCV001102659
RCV002225500
dbSNP Id:
rs781145070
ExAC:
10:43609938 C / T
gnomAD v2:
10-43609938-C-T
gnomAD v3:
10-43114490-C-T
gnomAD v4:
10-43114490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114490C>T , CM000672.2:g.43114490C>T | GRCh38 |
| NC_000010.10:g.43609938C>T , CM000672.1:g.43609938C>T | GRCh37 |
| NC_000010.9:g.42929944C>T | NCBI36 |
| NG_007489.1:g.42422C>T , LRG_518:g.42422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1494C>T | ENSP00000480088.2:p.Cys498= | |
| ENST00000683007.1:n.1464C>T | ||
| ENST00000683872.1:n.1455C>T | ||
| ENST00000340058.6:c.1890C>T | ENSP00000344798.4:p.Cys630= | |
| ENST00000355710.8:c.1890C>T MANE Select | ENSP00000347942.3:p.Cys630= | |
| ENST00000671844.1:c.*484C>T | ENSP00000500541.1:n.*484C>T | |
| ENST00000672389.1:c.*484C>T | ENSP00000500252.1:n.*484C>T | |
| ENST00000340058.5:c.1890C>T | ENSP00000344798.4:p.Cys630= | |
| ENST00000355710.7:c.1890C>T | ENSP00000347942.3:p.Cys630= | |
| ENST00000498820.5:c.441C>T | ENSP00000419080.1:p.Cys147= | |
| ENST00000615310.4:c.1289+3258C>T | ENSP00000480088.1:n.1289+3258C>T | |
| NM_020630.4:c.1890C>T , LRG_518t2:c.1890C>T | NP_065681.1:p.Cys630= | |
| NM_020975.4:c.1890C>T , LRG_518t1:c.1890C>T | NP_066124.1:p.Cys630= | |
| XM_011540027.1:c.1890C>T | XP_011538329.1:p.Cys630= | |
| NM_001355216.1:c.1128C>T | NP_001342145.1:p.Cys376= | |
| NM_020630.5:c.1890C>T | NP_065681.1:p.Cys630= | |
| NM_020975.5:c.1890C>T | NP_066124.1:p.Cys630= | |
| NM_020975.6:c.1890C>T MANE Select | NP_066124.1:p.Cys630= | |
| NM_020630.6:c.1890C>T | NP_065681.1:p.Cys630= |