Linked Data
ClinVar Variation Id:
320121
ClinVar RCV Id:
RCV000384079
dbSNP Id:
rs3743711
gnomAD v2:
16-66542957-G-A
gnomAD v3:
16-66509054-G-A
gnomAD v4:
16-66509054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66509054G>A , CM000678.2:g.66509054G>A | GRCh38 |
| NC_000016.9:g.66542957G>A , CM000678.1:g.66542957G>A | GRCh37 |
| NC_000016.8:g.65100458G>A | NCBI36 |
| NG_016862.1:g.46359C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544898.6:c.*2914C>T MANE Select | ENSP00000440898.2:n.*2914C>T | |
| ENST00000677166.1:n.109+2904C>T | ||
| ENST00000677319.1:c.110-283C>T | ENSP00000503900.1:n.110-283C>T | |
| ENST00000677535.1:c.1457-283C>T | ENSP00000502856.1:n.1457-283C>T | |
| ENST00000677753.1:n.81+4677C>T | ||
| ENST00000678219.1:c.1345-283C>T | ENSP00000504142.1:n.1345-283C>T | |
| ENST00000678282.1:n.81+4677C>T | ||
| ENST00000299697.11:c.*2914C>T | ENSP00000299697.8:n.*2914C>T | |
| ENST00000561527.5:n.258+4677C>T | ||
| ENST00000561728.1:c.148+4677C>T | ||
| ENST00000561905.2:c.54-283C>T | ||
| ENST00000620035.4:c.*2914C>T | ENSP00000483833.1:n.*2914C>T | |
| NM_001172643.1:c.*2914C>T | NP_001166114.1:n.*2914C>T | |
| NM_001172644.1:c.*2914C>T | NP_001166115.1:n.*2914C>T | |
| NM_001172645.1:c.*2914C>T | NP_001166116.1:n.*2914C>T | |
| NM_001271934.1:c.*2914C>T | NP_001258863.1:n.*2914C>T | |
| NM_001271935.1:c.*3009C>T | NP_001258864.1:n.*3009C>T | |
| NM_001272050.1:c.*2914C>T | NP_001258979.1:n.*2914C>T | |
| NM_004614.4:c.*2914C>T | NP_004605.4:n.*2914C>T | |
| NR_073520.1:n.4991C>T | ||
| NM_001172644.2:c.*2914C>T | NP_001166115.1:n.*2914C>T | |
| NM_001271934.2:c.*2914C>T | NP_001258863.1:n.*2914C>T | |
| NM_001272050.2:c.*2914C>T | NP_001258979.1:n.*2914C>T | |
| NM_004614.5:c.*2914C>T MANE Select | NP_004605.4:n.*2914C>T | |
| NR_073520.2:n.4701C>T | ||
| NM_001172645.2:c.*2914C>T | NP_001166116.1:n.*2914C>T |