Linked Data
ClinVar Variation Id:
30778
dbSNP Id:
rs373909351
ExAC:
3:121491506 G / A
gnomAD v2:
3-121491506-G-A
gnomAD v3:
3-121772659-G-A
gnomAD v4:
3-121772659-G-A
PubMed:
PMID:21220633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121772659G>A , CM000665.2:g.121772659G>A | GRCh38 |
| NC_000003.11:g.121491506G>A , CM000665.1:g.121491506G>A | GRCh37 |
| NC_000003.10:g.122974196G>A | NCBI36 |
| NG_015887.1:g.67421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.1465C>T MANE Select | ENSP00000311505.6:p.Arg489Ter | |
| ENST00000310864.10:c.1465C>T | ENSP00000311505.6:p.Arg489Ter | |
| ENST00000349820.10:c.1066C>T | ENSP00000323756.7:p.Arg356Ter | |
| ENST00000393650.7:c.*443C>T | ENSP00000377261.3:n.*443C>T | |
| NM_001023570.2:c.1465C>T | NP_001018864.2:p.Arg489Ter | |
| NM_001023571.2:c.1066C>T | NP_001018865.2:p.Arg356Ter | |
| XM_005247911.2:c.1411-2085C>T | XP_005247968.1:n.1411-2085C>T | |
| XM_005247912.1:c.913C>T | XP_005247969.1:p.Arg305Ter | |
| XM_011513335.1:c.913C>T | XP_011511637.1:p.Arg305Ter | |
| XR_924221.1:n.1482C>T | ||
| NM_001023570.3:c.1465C>T | NP_001018864.2:p.Arg489Ter | |
| NM_001023571.3:c.1066C>T | NP_001018865.2:p.Arg356Ter | |
| NM_001319107.1:c.1465C>T | NP_001306036.1:p.Arg489Ter | |
| NR_134968.1:n.1569C>T | ||
| XM_005247911.4:c.1411-2085C>T | XP_005247968.1:n.1411-2085C>T | |
| XM_005247912.3:c.913C>T | XP_005247969.1:p.Arg305Ter | |
| XM_011513335.3:c.913C>T | XP_011511637.1:p.Arg305Ter | |
| XM_017007537.2:c.913C>T | XP_016863026.1:p.Arg305Ter | |
| XM_017007539.2:c.1012-2085C>T | XP_016863028.1:n.1012-2085C>T | |
| XM_024453833.1:c.913C>T | XP_024309601.1:p.Arg305Ter | |
| XM_024453834.1:c.913C>T | XP_024309602.1:p.Arg305Ter | |
| XR_001740376.2:n.1444C>T | ||
| XR_001740377.2:n.1390-2085C>T | ||
| XR_001740378.2:n.1483C>T | ||
| XR_001740379.2:n.1334C>T | ||
| XR_001740380.2:n.1429-2085C>T | ||
| XR_001740381.2:n.1280-2085C>T | ||
| NM_001023570.4:c.1465C>T MANE Select | NP_001018864.2:p.Arg489Ter | |
| NM_001023571.4:c.1066C>T | NP_001018865.2:p.Arg356Ter | |
| NM_001319107.2:c.1465C>T | NP_001306036.1:p.Arg489Ter | |
| NR_134968.2:n.1550C>T |