Linked Data
ClinVar Variation Id:
1208475
ClinVar RCV Id:
RCV001576821
dbSNP Id:
rs2182966
ExAC:
20:30407884 A / G
gnomAD v2:
20-30407884-A-G
gnomAD v3:
20-31820081-A-G
gnomAD v4:
20-31820081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820081A>G , CM000682.2:g.31820081A>G | GRCh38 |
| NC_000020.10:g.30407884A>G , CM000682.1:g.30407884A>G | GRCh37 |
| NC_000020.9:g.29871545A>G | NCBI36 |
| NG_012847.1:g.5707A>G , LRG_392:g.5707A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.53-45A>G MANE Select | ENSP00000365152.4:n.53-45A>G | |
| ENST00000375985.4:c.53-45A>G | ENSP00000365152.4:n.53-45A>G | |
| ENST00000375994.6:c.53-45A>G | ENSP00000365162.2:n.53-45A>G | |
| NM_033118.3:c.53-45A>G , LRG_392t1:c.53-45A>G | NP_149109.1:n.53-45A>G | |
| XR_244155.1:n.218-45A>G | ||
| NM_033118.4:c.53-45A>G MANE Select | NP_149109.1:n.53-45A>G |