Linked Data
ClinVar Variation Id:
1208091
ClinVar RCV Id:
RCV001576284
dbSNP Id:
rs78331563
gnomAD v2:
16-56936562-C-T
gnomAD v3:
16-56902650-C-T
gnomAD v4:
16-56902650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56902650C>T , CM000678.2:g.56902650C>T | GRCh38 |
| NC_000016.9:g.56936562C>T , CM000678.1:g.56936562C>T | GRCh37 |
| NC_000016.8:g.55494063C>T | NCBI36 |
| NG_009386.1:g.42444C>T | |
| NG_009386.2:g.42444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2856+142C>T MANE Select | ENSP00000456149.2:n.2856+142C>T | |
| ENST00000262502.5:c.2853+142C>T | ENSP00000262502.5:n.2853+142C>T | |
| ENST00000438926.6:c.2883+142C>T | ENSP00000402152.2:n.2883+142C>T | |
| ENST00000563236.5:c.2856+142C>T | ENSP00000456149.1:n.2856+142C>T | |
| ENST00000566786.5:c.2880+142C>T | ENSP00000457552.1:n.2880+142C>T | |
| ENST00000569002.1:n.287+142C>T | ||
| NM_000339.2:c.2883+142C>T | NP_000330.2:n.2883+142C>T | |
| NM_001126107.1:c.2880+142C>T | NP_001119579.1:n.2880+142C>T | |
| NM_001126108.1:c.2856+142C>T | NP_001119580.1:n.2856+142C>T | |
| XM_005256119.1:c.2853+142C>T | XP_005256176.1:n.2853+142C>T | |
| XM_005256119.2:c.2853+142C>T | XP_005256176.1:n.2853+142C>T | |
| NM_000339.3:c.2883+142C>T | NP_000330.3:n.2883+142C>T | |
| NM_001126107.2:c.2880+142C>T | NP_001119579.2:n.2880+142C>T | |
| NM_001126108.2:c.2856+142C>T MANE Select | NP_001119580.2:n.2856+142C>T |