Linked Data
ClinVar Variation Id:
163485
ClinVar RCV Id:
RCV000150706
dbSNP Id:
rs727503058
PubMed:
PMID:17657824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644604A>G , CM000677.2:g.48644604A>G | GRCh38 |
| NC_000015.9:g.48936801A>G , CM000677.1:g.48936801A>G | GRCh37 |
| NC_000015.8:g.46724093A>G | NCBI36 |
| NG_008805.2:g.6185T>C , LRG_778:g.6185T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.164+2T>C | ENSP00000453958.2:n.164+2T>C | |
| ENST00000674301.2:c.164+2T>C | ENSP00000501333.2:n.164+2T>C | |
| ENST00000316623.10:c.164+2T>C MANE Select | ENSP00000325527.5:n.164+2T>C | |
| ENST00000316623.9:c.164+2T>C | ENSP00000325527.5:n.164+2T>C | |
| ENST00000537463.6:c.164+2T>C | ENSP00000440294.2:n.164+2T>C | |
| ENST00000558230.1:n.227+2T>C | ||
| ENST00000560355.1:c.166T>C | ENSP00000453901.1:p.Ter56Gln | |
| NM_000138.4:c.164+2T>C , LRG_778t1:c.164+2T>C | NP_000129.3:n.164+2T>C | |
| NM_000138.5:c.164+2T>C MANE Select | NP_000129.3:n.164+2T>C |