Linked Data
ClinVar Variation Id:
207876
ClinVar RCV Id:
RCV000190163
dbSNP Id:
rs796052166
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571405T>G , CM000673.2:g.2571405T>G | GRCh38 |
| NC_000011.9:g.2592635T>G , CM000673.1:g.2592635T>G | GRCh37 |
| NC_000011.8:g.2549211T>G | NCBI36 |
| NG_008935.1:g.131415T>G , LRG_287:g.131415T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.422+2T>G | ENSP00000434560.2:n.422+2T>G | |
| ENST00000646564.2:c.478-12030T>G | ENSP00000495806.2:n.478-12030T>G | |
| ENST00000155840.12:c.683+2T>G MANE Select | ENSP00000155840.2:n.683+2T>G | |
| ENST00000335475.6:c.302+2T>G | ENSP00000334497.5:n.302+2T>G | |
| ENST00000646564.1:c.124-12030T>G | ENSP00000495806.1:n.124-12030T>G | |
| ENST00000155840.9:c.683+2T>G | ENSP00000155840.2:n.683+2T>G | |
| ENST00000335475.5:c.302+2T>G | ENSP00000334497.5:n.302+2T>G | |
| ENST00000496887.6:c.422+2T>G | ENSP00000434560.1:n.422+2T>G | |
| NM_000218.2:c.683+2T>G , LRG_287t1:c.683+2T>G | NP_000209.2:n.683+2T>G | |
| NM_181798.1:c.302+2T>G , LRG_287t2:c.302+2T>G | NP_861463.1:n.302+2T>G | |
| NM_000218.3:c.683+2T>G MANE Select | NP_000209.2:n.683+2T>G |