Linked Data
ClinVar Variation Id:
469830
ClinVar RCV Id:
RCV003651956
dbSNP Id:
rs1056513509
gnomAD v2:
5-112043285-G-T
gnomAD v3:
5-112707588-G-T
gnomAD v4:
5-112707588-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707588G>T , CM000667.2:g.112707588G>T | GRCh38 |
| NC_000005.9:g.112043285G>T , CM000667.1:g.112043285G>T | GRCh37 |
| NC_000005.8:g.112071184G>T | NCBI36 |
| NG_008481.4:g.20068G>T , LRG_130:g.20068G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-130G>T | ENSP00000481752.1:n.-130G>T | |
| ENST00000507379.6:c.-130G>T | ENSP00000423224.2:n.-130G>T | |
| ENST00000509732.6:c.-80G>T | ENSP00000426541.2:n.-80G>T | |
| ENST00000505350.1:c.-130G>T | ENSP00000481752.1:n.-130G>T | |
| ENST00000507379.5:c.-130G>T | ENSP00000423224.1:n.-130G>T | |
| ENST00000509732.5:c.-80G>T | ENSP00000426541.1:n.-80G>T | |
| NM_001127511.2:c.-130G>T | NP_001120983.2:n.-130G>T | |
| NM_001354895.1:c.-313G>T | NP_001341824.1:n.-313G>T | |
| NM_001354897.1:c.-130G>T | NP_001341826.1:n.-130G>T | |
| NM_001354902.1:c.-130G>T | NP_001341831.1:n.-130G>T | |
| NM_001127511.3:c.-130G>T | NP_001120983.2:n.-130G>T | |
| NM_001354895.2:c.-313G>T | NP_001341824.1:n.-313G>T | |
| NM_001354897.2:c.-130G>T | NP_001341826.1:n.-130G>T | |
| NM_001354902.2:c.-130G>T | NP_001341831.1:n.-130G>T |