Linked Data
ClinVar Variation Id:
7057
ClinVar RCV Id:
RCV000007473
dbSNP Id:
rs730882183
gnomAD v4:
2-135120817-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135120817A>G , CM000664.2:g.135120817A>G | GRCh38 |
| NC_000002.11:g.135878387A>G , CM000664.1:g.135878387A>G | GRCh37 |
| NC_000002.10:g.135594857A>G | NCBI36 |
| NG_016972.1:g.73553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.649-2A>G | ENSP00000444306.2:n.649-2A>G | |
| ENST00000685967.1:c.*106-2A>G | ENSP00000508423.1:n.*106-2A>G | |
| ENST00000686114.1:n.662-2A>G | ||
| ENST00000687199.1:c.*717-2A>G | ENSP00000510319.1:n.*717-2A>G | |
| ENST00000688088.1:n.668-2A>G | ||
| ENST00000688182.1:c.151-46876A>G | ENSP00000509324.1:n.151-46876A>G | |
| ENST00000689880.1:n.668-2A>G | ||
| ENST00000690208.1:c.*327-2A>G | ENSP00000510746.1:n.*327-2A>G | |
| ENST00000690785.1:n.668-2A>G | ||
| ENST00000691339.1:c.*272-2A>G | ENSP00000509953.1:n.*272-2A>G | |
| ENST00000691478.1:c.*748-2A>G | ENSP00000509081.1:n.*748-2A>G | |
| ENST00000693554.1:c.649-2A>G | ENSP00000509030.1:n.649-2A>G | |
| ENST00000264158.13:c.649-2A>G MANE Select | ENSP00000264158.8:n.649-2A>G | |
| ENST00000264158.12:c.649-2A>G | ENSP00000264158.7:n.649-2A>G | |
| ENST00000442034.5:c.649-2A>G | ENSP00000411418.1:n.649-2A>G | |
| ENST00000487003.5:n.718-2A>G | ||
| ENST00000539493.2:c.517-2A>G | ENSP00000444306.1:n.517-2A>G | |
| NM_001172435.1:c.649-2A>G | NP_001165906.1:n.649-2A>G | |
| NM_012233.2:c.649-2A>G | NP_036365.1:n.649-2A>G | |
| XM_011510822.1:c.649-2A>G | XP_011509124.1:n.649-2A>G | |
| XM_011510823.1:c.649-2A>G | XP_011509125.1:n.649-2A>G | |
| XM_011510824.1:c.649-2A>G | XP_011509126.1:n.649-2A>G | |
| XM_011510825.1:c.649-2A>G | XP_011509127.1:n.649-2A>G | |
| XM_011510823.3:c.649-2A>G | XP_011509125.1:n.649-2A>G | |
| XM_011510825.3:c.649-2A>G | XP_011509127.1:n.649-2A>G | |
| XR_001738674.2:n.676-2A>G | ||
| NM_001172435.2:c.649-2A>G | NP_001165906.1:n.649-2A>G | |
| NM_012233.3:c.649-2A>G MANE Select | NP_036365.1:n.649-2A>G |