Linked Data
ClinVar Variation Id:
424108
ClinVar RCV Id:
RCV000484724
dbSNP Id:
rs760102201
ExAC:
18:19321736 G / T
gnomAD v2:
18-19321736-G-T
gnomAD v4:
18-21741775-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21741775G>T , CM000680.2:g.21741775G>T | GRCh38 |
| NC_000018.9:g.19321736G>T , CM000680.1:g.19321736G>T | GRCh37 |
| NC_000018.8:g.17575734G>T | NCBI36 |
| NG_033272.2:g.41819G>T , LRG_759:g.41819G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.192G>T MANE Select | ENSP00000261537.6:p.Gly64= | |
| ENST00000261537.6:c.192G>T | ENSP00000261537.6:p.Gly64= | |
| ENST00000578646.5:n.168-23997G>T | ||
| NM_020774.3:c.192G>T , LRG_759t1:c.192G>T | NP_065825.1:p.Gly64= | |
| XR_935234.1:n.983G>T | ||
| XR_935235.1:n.983G>T | ||
| XM_017025874.1:c.192G>T | XP_016881363.1:p.Gly64= | |
| XM_017025875.1:c.192G>T | XP_016881364.1:p.Gly64= | |
| NM_020774.4:c.192G>T MANE Select | NP_065825.1:p.Gly64= |