Linked Data
ClinVar Variation Id:
1830
dbSNP Id:
rs121918244
ExAC:
3:121500619 G / A
gnomAD v2:
3-121500619-G-A
gnomAD v3:
3-121781772-G-A
gnomAD v4:
3-121781772-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121781772G>A , CM000665.2:g.121781772G>A | GRCh38 |
| NC_000003.11:g.121500619G>A , CM000665.1:g.121500619G>A | GRCh37 |
| NC_000003.10:g.122983309G>A | NCBI36 |
| NG_015887.1:g.58308C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310864.11:c.1381C>T MANE Select | ENSP00000311505.6:p.Arg461Ter | |
| ENST00000310864.10:c.1381C>T | ENSP00000311505.6:p.Arg461Ter | |
| ENST00000349820.10:c.982C>T | ENSP00000323756.7:p.Arg328Ter | |
| ENST00000393650.7:c.*359C>T | ENSP00000377261.3:n.*359C>T | |
| NM_001023570.2:c.1381C>T | NP_001018864.2:p.Arg461Ter | |
| NM_001023571.2:c.982C>T | NP_001018865.2:p.Arg328Ter | |
| XM_005247911.2:c.1381C>T | XP_005247968.1:p.Arg461Ter | |
| XM_005247912.1:c.829C>T | XP_005247969.1:p.Arg277Ter | |
| XM_005247913.1:c.*95C>T | XP_005247970.1:n.*95C>T | |
| XM_011513335.1:c.829C>T | XP_011511637.1:p.Arg277Ter | |
| XR_924221.1:n.1398C>T | ||
| NM_001023570.3:c.1381C>T | NP_001018864.2:p.Arg461Ter | |
| NM_001023571.3:c.982C>T | NP_001018865.2:p.Arg328Ter | |
| NM_001319107.1:c.1381C>T | NP_001306036.1:p.Arg461Ter | |
| NR_134968.1:n.1485C>T | ||
| XM_005247911.4:c.1381C>T | XP_005247968.1:p.Arg461Ter | |
| XM_005247912.3:c.829C>T | XP_005247969.1:p.Arg277Ter | |
| XM_011513335.3:c.829C>T | XP_011511637.1:p.Arg277Ter | |
| XM_017007537.2:c.829C>T | XP_016863026.1:p.Arg277Ter | |
| XM_017007539.2:c.982C>T | XP_016863028.1:p.Arg328Ter | |
| XM_024453833.1:c.829C>T | XP_024309601.1:p.Arg277Ter | |
| XM_024453834.1:c.829C>T | XP_024309602.1:p.Arg277Ter | |
| XR_001740376.2:n.1360C>T | ||
| XR_001740377.2:n.1360C>T | ||
| XR_001740378.2:n.1399C>T | ||
| XR_001740379.2:n.1250C>T | ||
| XR_001740380.2:n.1399C>T | ||
| XR_001740381.2:n.1250C>T | ||
| NM_001023570.4:c.1381C>T MANE Select | NP_001018864.2:p.Arg461Ter | |
| NM_001023571.4:c.982C>T | NP_001018865.2:p.Arg328Ter | |
| NM_001319107.2:c.1381C>T | NP_001306036.1:p.Arg461Ter | |
| NR_134968.2:n.1466C>T |