Linked Data
ClinVar Variation Id:
488720
dbSNP Id:
rs535142665
gnomAD v3:
10-87863557-T-C
gnomAD v4:
10-87863557-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863557T>C , CM000672.2:g.87863557T>C | GRCh38 |
| NC_000010.10:g.89623314T>C , CM000672.1:g.89623314T>C | GRCh37 |
| NC_000010.9:g.89613294T>C | NCBI36 |
| NG_007466.2:g.5120T>C , LRG_311:g.5120T>C | |
| NG_033079.1:g.4881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-897T>C | ENSP00000516674.1:n.-16-897T>C | |
| ENST00000688308.1:c.-17+444T>C | ENSP00000508752.1:n.-17+444T>C | |
| ENST00000693560.1:c.-393T>C | ENSP00000509861.1:n.-393T>C | |
| ENST00000371953.7:c.-913T>C | ENSP00000361021.3:n.-913T>C | |
| ENST00000610634.1:c.-1015T>C | ENSP00000477517.1:n.-1015T>C | |
| NM_000314.5:c.-912T>C | NP_000305.3:n.-912T>C | |
| NM_000314.6:c.-912T>C | NP_000305.3:n.-912T>C | |
| NM_001304717.2:c.-393T>C | NP_001291646.2:n.-393T>C | |
| NM_001304718.1:c.-1617T>C | NP_001291647.1:n.-1617T>C |