Linked Data
ClinVar Variation Id:
384817
dbSNP Id:
rs12605999
ExAC:
18:19383993 A / G
gnomAD v2:
18-19383993-A-G
gnomAD v3:
18-21804032-A-G
gnomAD v4:
18-21804032-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21804032A>G , CM000680.2:g.21804032A>G | GRCh38 |
| NC_000018.9:g.19383993A>G , CM000680.1:g.19383993A>G | GRCh37 |
| NC_000018.8:g.17637991A>G | NCBI36 |
| NG_033272.2:g.104076A>G , LRG_759:g.104076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.1479+18A>G MANE Select | ENSP00000261537.6:n.1479+18A>G | |
| ENST00000261537.6:c.1479+18A>G | ENSP00000261537.6:n.1479+18A>G | |
| ENST00000577749.5:n.387+18A>G | ||
| ENST00000578260.1:n.282+18A>G | ||
| ENST00000578646.5:n.1456+18A>G | ||
| NM_020774.3:c.1479+18A>G , LRG_759t1:c.1479+18A>G | NP_065825.1:n.1479+18A>G | |
| XR_935234.1:n.2270+18A>G | ||
| XR_935235.1:n.2270+18A>G | ||
| XM_017025873.1:c.963+18A>G | XP_016881362.1:n.963+18A>G | |
| XM_017025874.1:c.1479+18A>G | XP_016881363.1:n.1479+18A>G | |
| XM_017025875.1:c.1479+18A>G | XP_016881364.1:n.1479+18A>G | |
| NM_020774.4:c.1479+18A>G MANE Select | NP_065825.1:n.1479+18A>G |