Linked Data
ClinVar Variation Id:
290273
dbSNP Id:
rs886044408
gnomAD v2:
18-2784525-C-T
gnomAD v3:
18-2784527-C-T
gnomAD v4:
18-2784527-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2784527C>T , CM000680.2:g.2784527C>T | GRCh38 |
| NC_000018.9:g.2784525C>T , CM000680.1:g.2784525C>T | GRCh37 |
| NC_000018.8:g.2774525C>T | NCBI36 |
| NG_031972.1:g.133640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685656.1:n.1932C>T | ||
| ENST00000686763.1:c.*1184C>T | ENSP00000510263.1:n.*1184C>T | |
| ENST00000686864.1:c.2316C>T | ||
| ENST00000688342.1:c.5493C>T | ENSP00000508422.1:p.Gly1831= | |
| ENST00000688708.1:n.4354C>T | ||
| ENST00000688964.1:n.2134C>T | ||
| ENST00000689034.1:n.3572C>T | ||
| ENST00000689800.1:n.1742C>T | ||
| ENST00000320876.11:c.5625C>T MANE Select | ENSP00000326603.7:p.Gly1875= | |
| ENST00000642953.1:c.527C>T | ||
| ENST00000645355.1:c.1670C>T | ||
| ENST00000320876.10:c.5625C>T | ENSP00000326603.6:p.Gly1875= | |
| ENST00000577880.5:c.4038C>T | ENSP00000463049.1:p.Gly1346= | |
| ENST00000584897.5:c.3374C>T | ||
| NM_015295.2:c.5625C>T | NP_056110.2:p.Gly1875= | |
| XM_011525642.1:c.5625C>T | XP_011523944.1:p.Gly1875= | |
| XM_011525643.1:c.5625C>T | XP_011523945.1:p.Gly1875= | |
| XM_011525644.1:c.5241C>T | XP_011523946.1:p.Gly1747= | |
| XM_011525645.1:c.5061C>T | XP_011523947.1:p.Gly1687= | |
| XR_430039.1:n.5743C>T | ||
| XR_935054.1:n.5623C>T | ||
| XR_935055.1:n.5552C>T | ||
| XM_011525643.2:c.5625C>T | XP_011523945.1:p.Gly1875= | |
| XM_017025684.1:c.5061C>T | XP_016881173.1:p.Gly1687= | |
| XR_001753172.1:n.5814C>T | ||
| XR_001753173.1:n.5814C>T | ||
| XR_001753174.1:n.5743C>T | ||
| XR_001753175.1:n.5743C>T | ||
| XR_001753176.1:n.5623C>T | ||
| XR_001753177.1:n.5726C>T | ||
| XR_001753178.1:n.5663C>T | ||
| XR_935055.2:n.5552C>T | ||
| NM_015295.3:c.5625C>T MANE Select | NP_056110.2:p.Gly1875= |