Linked Data
ClinVar Variation Id:
448425
dbSNP Id:
rs942559171
gnomAD v2:
18-2750448-C-T
gnomAD v3:
18-2750450-C-T
gnomAD v4:
18-2750450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2750450C>T , CM000680.2:g.2750450C>T | GRCh38 |
| NC_000018.9:g.2750448C>T , CM000680.1:g.2750448C>T | GRCh37 |
| NC_000018.8:g.2740448C>T | NCBI36 |
| NG_031972.1:g.99563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583441.2:n.1794C>T | ||
| ENST00000686763.1:c.913C>T | ENSP00000510263.1:p.Arg305Cys | |
| ENST00000686864.1:c.870C>T | ||
| ENST00000688342.1:c.4108C>T | ENSP00000508422.1:p.Arg1370Cys | |
| ENST00000688708.1:n.2764C>T | ||
| ENST00000690757.1:n.1565C>T | ||
| ENST00000693213.1:n.3306C>T | ||
| ENST00000320876.11:c.4108C>T MANE Select | ENSP00000326603.7:p.Arg1370Cys | |
| ENST00000645355.1:c.21C>T | ||
| ENST00000320876.10:c.4108C>T | ENSP00000326603.6:p.Arg1370Cys | |
| ENST00000577880.5:c.2521C>T | ENSP00000463049.1:p.Arg841Cys | |
| ENST00000584897.5:c.1928C>T | ||
| NM_015295.2:c.4108C>T | NP_056110.2:p.Arg1370Cys | |
| XM_011525642.1:c.4108C>T | XP_011523944.1:p.Arg1370Cys | |
| XM_011525643.1:c.4108C>T | XP_011523945.1:p.Arg1370Cys | |
| XM_011525644.1:c.3724C>T | XP_011523946.1:p.Arg1242Cys | |
| XM_011525645.1:c.3544C>T | XP_011523947.1:p.Arg1182Cys | |
| XM_011525646.1:c.4108C>T | XP_011523948.1:p.Arg1370Cys | |
| XM_011525647.1:c.*77C>T | XP_011523949.1:n.*77C>T | |
| XR_430039.1:n.4297C>T | ||
| XR_935054.1:n.4297C>T | ||
| XR_935055.1:n.4297C>T | ||
| XM_011525643.2:c.4108C>T | XP_011523945.1:p.Arg1370Cys | |
| XM_017025684.1:c.3544C>T | XP_016881173.1:p.Arg1182Cys | |
| XR_001753172.1:n.4297C>T | ||
| XR_001753173.1:n.4297C>T | ||
| XR_001753174.1:n.4297C>T | ||
| XR_001753175.1:n.4297C>T | ||
| XR_001753176.1:n.4297C>T | ||
| XR_001753177.1:n.4297C>T | ||
| XR_001753178.1:n.4217C>T | ||
| XR_001753179.1:n.4217C>T | ||
| XR_935055.2:n.4297C>T | ||
| NM_015295.3:c.4108C>T MANE Select | NP_056110.2:p.Arg1370Cys |