Linked Data
ClinVar Variation Id:
1765018
dbSNP Id:
rs1174031292
gnomAD v3:
10-43106397-C-T
gnomAD v4:
10-43106397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106397C>T , CM000672.2:g.43106397C>T | GRCh38 |
| NC_000010.10:g.43601845C>T , CM000672.1:g.43601845C>T | GRCh37 |
| NC_000010.9:g.42921851C>T | NCBI36 |
| NG_007489.1:g.34329C>T , LRG_518:g.34329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1204C>T | ENSP00000480088.2:n.867+1204C>T | |
| ENST00000683007.1:n.463C>T | ||
| ENST00000340058.6:c.889C>T | ENSP00000344798.4:p.Arg297Cys | |
| ENST00000355710.8:c.889C>T MANE Select | ENSP00000347942.3:p.Arg297Cys | |
| ENST00000671844.1:c.625+3768C>T | ENSP00000500541.1:n.625+3768C>T | |
| ENST00000672389.1:c.74-4810C>T | ENSP00000500252.1:n.74-4810C>T | |
| ENST00000340058.5:c.889C>T | ENSP00000344798.4:p.Arg297Cys | |
| ENST00000355710.7:c.889C>T | ENSP00000347942.3:p.Arg297Cys | |
| ENST00000479913.1:n.484C>T | ||
| ENST00000498820.5:c.74-5702C>T | ENSP00000419080.1:n.74-5702C>T | |
| ENST00000615310.4:c.889C>T | ENSP00000480088.1:p.Arg297Cys | |
| NM_020630.4:c.889C>T , LRG_518t2:c.889C>T | NP_065681.1:p.Arg297Cys | |
| NM_020975.4:c.889C>T , LRG_518t1:c.889C>T | NP_066124.1:p.Arg297Cys | |
| XM_011540027.1:c.889C>T | XP_011538329.1:p.Arg297Cys | |
| NM_001355216.1:c.127C>T | NP_001342145.1:p.Arg43Cys | |
| NM_020630.5:c.889C>T | NP_065681.1:p.Arg297Cys | |
| NM_020975.5:c.889C>T | NP_066124.1:p.Arg297Cys | |
| NM_020975.6:c.889C>T MANE Select | NP_066124.1:p.Arg297Cys | |
| NM_020630.6:c.889C>T | NP_065681.1:p.Arg297Cys |