Linked Data
ClinVar Variation Id:
1729271
ClinVar RCV Id:
RCV002324775
dbSNP Id:
rs953684652
gnomAD v4:
12-32878933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878933T>C , CM000674.2:g.32878933T>C | GRCh38 |
| NC_000012.11:g.33031867T>C , CM000674.1:g.33031867T>C | GRCh37 |
| NC_000012.10:g.32923134T>C | NCBI36 |
| NG_009000.1:g.22914A>G , LRG_398:g.22914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.323A>G | ENSP00000515065.2:p.Tyr108Cys | |
| ENST00000700563.2:c.323A>G | ENSP00000515066.2:p.Tyr108Cys | |
| ENST00000700563.1:c.277A>G | ||
| ENST00000700564.1:n.327A>G | ||
| ENST00000700565.1:n.176A>G | ||
| ENST00000070846.11:c.323A>G | ENSP00000070846.6:p.Tyr108Cys | |
| ENST00000340811.9:c.323A>G MANE Select | ENSP00000342800.5:p.Tyr108Cys | |
| ENST00000070846.10:c.323A>G | ENSP00000070846.6:p.Tyr108Cys | |
| ENST00000340811.8:c.323A>G | ENSP00000342800.4:p.Tyr108Cys | |
| ENST00000613243.1:c.323A>G | ENSP00000478295.1:p.Tyr108Cys | |
| NM_001005242.2:c.323A>G | NP_001005242.2:p.Tyr108Cys | |
| NM_004572.3:c.323A>G , LRG_398t1:c.323A>G | NP_004563.2:p.Tyr108Cys | |
| NM_001005242.3:c.323A>G MANE Select | NP_001005242.2:p.Tyr108Cys | |
| NM_004572.4:c.323A>G | NP_004563.2:p.Tyr108Cys |