Linked Data
ClinVar Variation Id:
1674275
ClinVar RCV Id:
RCV002206552
dbSNP Id:
rs1675686732
gnomAD v4:
2-73601453-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601453T>C , CM000664.2:g.73601453T>C | GRCh38 |
| NC_000002.11:g.73828580T>C , CM000664.1:g.73828580T>C | GRCh37 |
| NC_000002.10:g.73682088T>C | NCBI36 |
| NG_011690.1:g.220701T>C , LRG_741:g.220701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11733+17T>C | ENSP00000507671.1:n.11733+17T>C | |
| ENST00000682801.1:c.11167-732T>C | ENSP00000507862.1:n.11167-732T>C | |
| ENST00000682859.1:c.11733+17T>C | ENSP00000508222.1:n.11733+17T>C | |
| ENST00000683791.1:c.4819+17T>C | ||
| ENST00000684460.1:c.9014+17T>C | ||
| ENST00000684548.1:c.11733+17T>C | ENSP00000507421.1:n.11733+17T>C | |
| ENST00000684590.1:c.6180+17T>C | ENSP00000507376.1:n.6180+17T>C | |
| ENST00000684656.1:c.9198+17T>C | ||
| ENST00000613296.6:c.12114+17T>C MANE Select | ENSP00000482968.1:n.12114+17T>C | |
| ENST00000651057.1:c.2268+17T>C | ENSP00000498504.1:n.2268+17T>C | |
| ENST00000651434.1:c.3470+17T>C | ||
| ENST00000651750.1:c.1260+572T>C | ||
| ENST00000652487.1:c.3285+17T>C | ||
| ENST00000464408.3:n.289+17T>C | ||
| ENST00000484298.5:c.11988+17T>C | ENSP00000478155.1:n.11988+17T>C | |
| ENST00000613296.4:c.12114+17T>C | ENSP00000482968.1:n.12114+17T>C | |
| ENST00000620466.4:n.5917+17T>C | ||
| NM_015120.4:c.12117+17T>C , LRG_741t1:c.12117+17T>C | NP_055935.4:n.12117+17T>C | |
| NM_001378454.1:c.12114+17T>C MANE Select | NP_001365383.1:n.12114+17T>C |