Linked Data
ClinVar Variation Id:
220867
dbSNP Id:
rs140630401
ExAC:
3:121491530 C / T
gnomAD v2:
3-121491530-C-T
gnomAD v3:
3-121772683-C-T
gnomAD v4:
3-121772683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121772683C>T , CM000665.2:g.121772683C>T | GRCh38 |
| NC_000003.11:g.121491530C>T , CM000665.1:g.121491530C>T | GRCh37 |
| NC_000003.10:g.122974220C>T | NCBI36 |
| NG_015887.1:g.67397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.1441G>A MANE Select | ENSP00000311505.6:p.Glu481Lys | |
| ENST00000310864.10:c.1441G>A | ENSP00000311505.6:p.Glu481Lys | |
| ENST00000349820.10:c.1042G>A | ENSP00000323756.7:p.Glu348Lys | |
| ENST00000393650.7:c.*419G>A | ENSP00000377261.3:n.*419G>A | |
| NM_001023570.2:c.1441G>A | NP_001018864.2:p.Glu481Lys | |
| NM_001023571.2:c.1042G>A | NP_001018865.2:p.Glu348Lys | |
| XM_005247911.2:c.1411-2109G>A | XP_005247968.1:n.1411-2109G>A | |
| XM_005247912.1:c.889G>A | XP_005247969.1:p.Glu297Lys | |
| XM_011513335.1:c.889G>A | XP_011511637.1:p.Glu297Lys | |
| XR_924221.1:n.1458G>A | ||
| NM_001023570.3:c.1441G>A | NP_001018864.2:p.Glu481Lys | |
| NM_001023571.3:c.1042G>A | NP_001018865.2:p.Glu348Lys | |
| NM_001319107.1:c.1441G>A | NP_001306036.1:p.Glu481Lys | |
| NR_134968.1:n.1545G>A | ||
| XM_005247911.4:c.1411-2109G>A | XP_005247968.1:n.1411-2109G>A | |
| XM_005247912.3:c.889G>A | XP_005247969.1:p.Glu297Lys | |
| XM_011513335.3:c.889G>A | XP_011511637.1:p.Glu297Lys | |
| XM_017007537.2:c.889G>A | XP_016863026.1:p.Glu297Lys | |
| XM_017007539.2:c.1012-2109G>A | XP_016863028.1:n.1012-2109G>A | |
| XM_024453833.1:c.889G>A | XP_024309601.1:p.Glu297Lys | |
| XM_024453834.1:c.889G>A | XP_024309602.1:p.Glu297Lys | |
| XR_001740376.2:n.1420G>A | ||
| XR_001740377.2:n.1390-2109G>A | ||
| XR_001740378.2:n.1459G>A | ||
| XR_001740379.2:n.1310G>A | ||
| XR_001740380.2:n.1429-2109G>A | ||
| XR_001740381.2:n.1280-2109G>A | ||
| NM_001023570.4:c.1441G>A MANE Select | NP_001018864.2:p.Glu481Lys | |
| NM_001023571.4:c.1042G>A | NP_001018865.2:p.Glu348Lys | |
| NM_001319107.2:c.1441G>A | NP_001306036.1:p.Glu481Lys | |
| NR_134968.2:n.1526G>A |