Linked Data
ClinVar Variation Id:
359946
ClinVar RCV Id:
RCV000385130
dbSNP Id:
rs76826100
gnomAD v2:
7-27133152-T-C
gnomAD v3:
7-27093533-T-C
gnomAD v4:
7-27093533-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27093533T>C , CM000669.2:g.27093533T>C | GRCh38 |
| NC_000007.13:g.27133152T>C , CM000669.1:g.27133152T>C | GRCh37 |
| NC_000007.12:g.27099677T>C | NCBI36 |
| NG_011813.1:g.7474A>G | |
| NG_033087.1:g.2440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.*907A>G MANE Select | ENSP00000494260.2:n.*907A>G | |
| ENST00000343060.4:c.*907A>G | ENSP00000343246.4:n.*907A>G | |
| ENST00000355633.5:c.*1298A>G | ENSP00000347851.5:n.*1298A>G | |
| NM_005522.4:c.*907A>G | NP_005513.1:n.*907A>G | |
| NM_153620.2:c.*1298A>G | NP_705873.2:n.*1298A>G | |
| NM_005522.5:c.*907A>G MANE Select | NP_005513.2:n.*907A>G | |
| NM_153620.3:c.*1298A>G | NP_705873.3:n.*1298A>G |