Linked Data
ClinVar Variation Id:
384702
dbSNP Id:
rs11877131
ExAC:
18:19427096 A / G
gnomAD v2:
18-19427096-A-G
gnomAD v3:
18-21847135-A-G
gnomAD v4:
18-21847135-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21847135A>G , CM000680.2:g.21847135A>G | GRCh38 |
| NC_000018.9:g.19427096A>G , CM000680.1:g.19427096A>G | GRCh37 |
| NC_000018.8:g.17681094A>G | NCBI36 |
| NG_033272.2:g.147179A>G , LRG_759:g.147179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.2393+10A>G MANE Select | ENSP00000261537.6:n.2393+10A>G | |
| ENST00000261537.6:c.2393+10A>G | ENSP00000261537.6:n.2393+10A>G | |
| ENST00000578646.5:n.2370+10A>G | ||
| NM_020774.3:c.2393+10A>G , LRG_759t1:c.2393+10A>G | NP_065825.1:n.2393+10A>G | |
| XM_011526098.1:c.923+10A>G | XP_011524400.1:n.923+10A>G | |
| XM_017025873.1:c.1877+10A>G | XP_016881362.1:n.1877+10A>G | |
| NM_020774.4:c.2393+10A>G MANE Select | NP_065825.1:n.2393+10A>G |