Linked Data
ClinVar Variation Id:
1239827
ClinVar RCV Id:
RCV001637791
dbSNP Id:
rs1046495
ExAC:
16:2036048 T / C
gnomAD v2:
16-2036048-T-C
gnomAD v3:
16-1986047-T-C
gnomAD v4:
16-1986047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986047T>C , CM000678.2:g.1986047T>C | GRCh38 |
| NC_000016.9:g.2036048T>C , CM000678.1:g.2036048T>C | GRCh37 |
| NC_000016.8:g.1976049T>C | NCBI36 |
| NG_016288.1:g.6899T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*19T>C | ENSP00000455885.1:n.*19T>C | |
| ENST00000248114.7:c.*19T>C MANE Select | ENSP00000248114.6:n.*19T>C | |
| ENST00000248114.6:c.*19T>C | ENSP00000248114.6:n.*19T>C | |
| ENST00000565658.1:n.794T>C | ||
| ENST00000567719.1:c.*19T>C | ENSP00000455885.1:n.*19T>C | |
| ENST00000569451.1:c.*110T>C | ENSP00000456432.1:n.*110T>C | |
| NM_005262.2:c.*19T>C | NP_005253.3:n.*19T>C | |
| NM_005262.3:c.*19T>C MANE Select | NP_005253.3:n.*19T>C |