Linked Data
ClinVar Variation Id:
1936497
ClinVar RCV Id:
RCV002636451
dbSNP Id:
rs751071752
ExAC:
11:68131300 C / T
gnomAD v2:
11-68131300-C-T
gnomAD v3:
11-68363832-C-T
gnomAD v4:
11-68363832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68363832C>T , CM000673.2:g.68363832C>T | GRCh38 |
| NC_000011.9:g.68131300C>T , CM000673.1:g.68131300C>T | GRCh37 |
| NC_000011.8:g.67887876C>T | NCBI36 |
| NG_015835.1:g.56193C>T | |
| NG_015835.2:g.56193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.772C>T MANE Select | ENSP00000294304.6:p.Arg258Cys | |
| ENST00000294304.11:c.772C>T | ENSP00000294304.6:p.Arg258Cys | |
| ENST00000529993.5:c.772C>T | ENSP00000436652.1:p.Arg258Cys | |
| NM_001291902.1:c.-994C>T | NP_001278831.1:n.-994C>T | |
| NM_002335.3:c.772C>T | NP_002326.2:p.Arg258Cys | |
| XM_005273994.2:c.772C>T | XP_005274051.1:p.Arg258Cys | |
| XM_011545029.1:c.799C>T | XP_011543331.1:p.Arg267Cys | |
| XM_011545030.1:c.799C>T | XP_011543332.1:p.Arg267Cys | |
| XM_011545031.1:c.799C>T | XP_011543333.1:p.Arg267Cys | |
| XR_949925.1:n.814C>T | ||
| XR_949926.1:n.814C>T | ||
| XR_001747874.1:n.814C>T | ||
| XR_949925.2:n.814C>T | ||
| XR_949926.2:n.814C>T | ||
| NM_002335.4:c.772C>T MANE Select | NP_002326.2:p.Arg258Cys | |
| NM_001291902.2:c.-994C>T | NP_001278831.1:n.-994C>T |