Linked Data
ClinVar Variation Id:
2063204
ClinVar RCV Id:
RCV002948280
dbSNP Id:
rs564695479
gnomAD v3:
2-169487787-C-T
gnomAD v4:
2-169487787-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169487787C>T , CM000664.2:g.169487787C>T | GRCh38 |
| NC_000002.11:g.170344297C>T , CM000664.1:g.170344297C>T | GRCh37 |
| NC_000002.10:g.170052543C>T | NCBI36 |
| NG_011567.1:g.13292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.209-19C>T MANE Select | ENSP00000295240.3:n.209-19C>T | |
| ENST00000295240.7:c.209-19C>T | ENSP00000295240.3:n.209-19C>T | |
| ENST00000392663.6:c.209-19C>T | ENSP00000376431.2:n.209-19C>T | |
| ENST00000443151.1:c.143-200C>T | ENSP00000406182.1:n.143-200C>T | |
| ENST00000475571.1:n.26C>T | ||
| ENST00000513963.1:c.209-19C>T | ENSP00000424363.1:n.209-19C>T | |
| NM_152384.2:c.209-19C>T | NP_689597.1:n.209-19C>T | |
| NM_152384.3:c.209-19C>T MANE Select | NP_689597.1:n.209-19C>T |