Linked Data
ClinVar Variation Id:
392954
dbSNP Id:
rs201862538
ExAC:
2:27700993 G / A
gnomAD v2:
2-27700993-G-A
gnomAD v3:
2-27478126-G-A
gnomAD v4:
2-27478126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27478126G>A , CM000664.2:g.27478126G>A | GRCh38 |
| NC_000002.11:g.27700993G>A , CM000664.1:g.27700993G>A | GRCh37 |
| NC_000002.10:g.27554497G>A | NCBI36 |
| NG_034068.1:g.16686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.1036C>T MANE Select | ENSP00000260570.3:p.Arg346Ter | |
| ENST00000476264.7:n.1325C>T | ||
| ENST00000674701.1:c.1036C>T | ENSP00000502275.1:p.Arg346Ter | |
| ENST00000674824.1:c.973C>T | ENSP00000501824.1:p.Arg325Ter | |
| ENST00000674932.1:c.*699C>T | ENSP00000501967.1:n.*699C>T | |
| ENST00000675410.1:c.355C>T | ENSP00000502030.1:p.Arg119Ter | |
| ENST00000675618.1:n.1116C>T | ||
| ENST00000675690.1:c.1036C>T | ENSP00000502283.1:p.Arg346Ter | |
| ENST00000675728.1:c.973C>T | ENSP00000501700.1:p.Arg325Ter | |
| ENST00000675729.1:c.1036C>T | ENSP00000502319.1:p.Arg346Ter | |
| ENST00000675963.1:c.*734C>T | ENSP00000502708.1:n.*734C>T | |
| ENST00000676119.1:c.*326C>T | ENSP00000501701.1:n.*326C>T | |
| ENST00000676300.1:n.1122C>T | ||
| ENST00000260570.7:c.1036C>T | ENSP00000260570.3:p.Arg346Ter | |
| ENST00000359466.10:c.1036C>T | ENSP00000352443.6:p.Arg346Ter | |
| ENST00000416524.2:c.973C>T | ENSP00000407408.2:p.Arg325Ter | |
| ENST00000476264.6:n.982C>T | ||
| ENST00000507184.5:n.1168C>T | ||
| ENST00000511842.5:n.1061C>T | ||
| NM_015662.2:c.1036C>T | NP_056477.1:p.Arg346Ter | |
| XM_005264254.1:c.1036C>T | XP_005264311.1:p.Arg346Ter | |
| XM_006711986.2:c.973C>T | XP_006712049.1:p.Arg325Ter | |
| XM_006711987.1:c.1036C>T | XP_006712050.1:p.Arg346Ter | |
| XM_011532757.1:c.355C>T | XP_011531059.1:p.Arg119Ter | |
| XM_011532758.1:c.1036C>T | XP_011531060.1:p.Arg346Ter | |
| XM_006711986.3:c.973C>T | XP_006712049.1:p.Arg325Ter | |
| XM_011532757.2:c.355C>T | XP_011531059.1:p.Arg119Ter | |
| XM_017003790.1:c.973C>T | XP_016859279.1:p.Arg325Ter | |
| XM_017003791.1:c.355C>T | XP_016859280.1:p.Arg119Ter | |
| XM_017003792.1:c.1036C>T | XP_016859281.1:p.Arg346Ter | |
| XM_017003793.1:c.-415C>T | XP_016859282.1:n.-415C>T | |
| XM_017003794.1:c.-415C>T | XP_016859283.1:n.-415C>T | |
| XM_017003795.1:c.-787C>T | XP_016859284.1:n.-787C>T | |
| XR_001738698.1:n.1091C>T | ||
| NM_015662.3:c.1036C>T MANE Select | NP_056477.1:p.Arg346Ter |