Linked Data
ClinVar Variation Id:
1958749
ClinVar RCV Id:
RCV002725619
dbSNP Id:
rs201484242
gnomAD v2:
11-67803759-C-T
gnomAD v3:
11-68036292-C-T
gnomAD v4:
11-68036292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036292C>T , CM000673.2:g.68036292C>T | GRCh38 |
| NC_000011.9:g.67803759C>T , CM000673.1:g.67803759C>T | GRCh37 |
| NC_000011.8:g.67560335C>T | NCBI36 |
| NG_007878.1:g.2277C>T , LRG_115:g.2277C>T | |
| NG_017040.1:g.10676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.412C>T MANE Select | ENSP00000315774.5:p.Arg138Cys | |
| ENST00000313468.9:c.412C>T | ENSP00000315774.5:p.Arg138Cys | |
| ENST00000524810.5:c.344C>T | ||
| ENST00000525419.5:c.358C>T | ENSP00000433521.1:p.Arg120Cys | |
| ENST00000526339.5:c.412C>T | ENSP00000436287.1:p.Arg138Cys | |
| ENST00000526446.5:c.*467C>T | ENSP00000433645.1:n.*467C>T | |
| ENST00000526542.1:n.363C>T | ||
| ENST00000528492.1:c.-27C>T | ENSP00000432848.1:n.-27C>T | |
| ENST00000531282.1:n.264C>T | ||
| NM_002496.3:c.412C>T | NP_002487.1:p.Arg138Cys | |
| XM_005274013.1:c.412C>T | XP_005274070.1:p.Arg138Cys | |
| XM_005274014.1:c.412C>T | XP_005274071.1:p.Arg138Cys | |
| XM_005274015.1:c.292C>T | XP_005274072.1:p.Arg98Cys | |
| XM_011545053.1:c.412C>T | XP_011543355.1:p.Arg138Cys | |
| NM_002496.4:c.412C>T MANE Select | NP_002487.1:p.Arg138Cys |