Linked Data
ClinVar Variation Id:
2705320
ClinVar RCV Id:
RCV003524102
dbSNP Id:
rs767508995
ExAC:
2:189856272 T / G
gnomAD v2:
2-189856272-T-G
gnomAD v4:
2-188991546-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991546T>G , CM000664.2:g.188991546T>G | GRCh38 |
| NC_000002.11:g.189856272T>G , CM000664.1:g.189856272T>G | GRCh37 |
| NC_000002.10:g.189564517T>G | NCBI36 |
| NG_007404.1:g.22174T>G , LRG_3:g.22174T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.897+15T>G | ENSP00000415346.2:n.897+15T>G | |
| ENST00000304636.9:c.897+15T>G MANE Select | ENSP00000304408.4:n.897+15T>G | |
| ENST00000304636.7:c.897+15T>G | ENSP00000304408.3:n.897+15T>G | |
| ENST00000317840.9:c.897+15T>G | ENSP00000315243.6:n.897+15T>G | |
| NM_000090.3:c.897+15T>G , LRG_3t1:c.897+15T>G | NP_000081.1:n.897+15T>G | |
| NM_000090.4:c.897+15T>G MANE Select | NP_000081.2:n.897+15T>G |