Linked Data
ClinVar Variation Id:
41789
ClinVar RCV Id:
RCV000034711
RCV000115884
RCV000122057
RCV000196842
RCV001507132
RCV002310998
RCV003315550
dbSNP Id:
rs140743238
ExAC:
18:48581261 C / T
gnomAD v2:
18-48581261-C-T
gnomAD v3:
18-51054891-C-T
gnomAD v4:
18-51054891-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51054891C>T , CM000680.2:g.51054891C>T | GRCh38 |
| NC_000018.9:g.48581261C>T , CM000680.1:g.48581261C>T | GRCh37 |
| NC_000018.8:g.46835259C>T | NCBI36 |
| NG_013013.2:g.91852C>T , LRG_318:g.91852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.565C>T | ENSP00000465878.2:p.Arg189Cys | |
| ENST00000589076.6:c.565C>T | ENSP00000466934.2:p.Arg189Cys | |
| ENST00000589941.2:c.565C>T | ENSP00000465874.2:p.Arg189Cys | |
| ENST00000590061.2:c.565C>T | ENSP00000464772.2:p.Arg189Cys | |
| ENST00000593223.2:c.565C>T | ENSP00000466118.2:p.Arg189Cys | |
| ENST00000611848.2:c.565C>T | ENSP00000478613.2:p.Arg189Cys | |
| ENST00000684953.1:n.1937C>T | ||
| ENST00000688307.1:n.53C>T | ||
| ENST00000342988.8:c.565C>T MANE Select | ENSP00000341551.3:p.Arg189Cys | |
| ENST00000342988.7:c.565C>T | ENSP00000341551.3:p.Arg189Cys | |
| ENST00000398417.6:c.565C>T | ENSP00000381452.1:p.Arg189Cys | |
| ENST00000585448.1:n.434C>T | ||
| ENST00000588745.5:c.565C>T | ENSP00000464901.1:p.Arg189Cys | |
| ENST00000590722.2:c.*741C>T | ENSP00000465737.1:n.*741C>T | |
| ENST00000591126.5:n.2566C>T | ||
| ENST00000592186.5:c.565C>T | ENSP00000468611.1:p.Arg189Cys | |
| ENST00000592911.5:n.343C>T | ||
| NM_005359.5:c.565C>T , LRG_318t1:c.565C>T | NP_005350.1:p.Arg189Cys | |
| NM_005359.6:c.565C>T MANE Select | NP_005350.1:p.Arg189Cys |