Linked Data
ClinVar Variation Id:
450475
ClinVar RCV Id:
RCV000520258
dbSNP Id:
rs142475589
ExAC:
18:19371378 C / T
gnomAD v2:
18-19371378-C-T
gnomAD v3:
18-21791417-C-T
gnomAD v4:
18-21791417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21791417C>T , CM000680.2:g.21791417C>T | GRCh38 |
| NC_000018.9:g.19371378C>T , CM000680.1:g.19371378C>T | GRCh37 |
| NC_000018.8:g.17625376C>T | NCBI36 |
| NG_033272.2:g.91461C>T , LRG_759:g.91461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.952C>T MANE Select | ENSP00000261537.6:p.Arg318Ter | |
| ENST00000261537.6:c.952C>T | ENSP00000261537.6:p.Arg318Ter | |
| ENST00000578646.5:n.929C>T | ||
| NM_020774.3:c.952C>T , LRG_759t1:c.952C>T | NP_065825.1:p.Arg318Ter | |
| XR_935234.1:n.1743C>T | ||
| XR_935235.1:n.1743C>T | ||
| XM_017025873.1:c.436C>T | XP_016881362.1:p.Arg146Ter | |
| XM_017025874.1:c.952C>T | XP_016881363.1:p.Arg318Ter | |
| XM_017025875.1:c.952C>T | XP_016881364.1:p.Arg318Ter | |
| NM_020774.4:c.952C>T MANE Select | NP_065825.1:p.Arg318Ter |