Linked Data
ClinVar Variation Id:
1395015
ClinVar RCV Id:
RCV001901068
dbSNP Id:
rs988796477
gnomAD v2:
3-48607727-C-T
gnomAD v3:
3-48570294-C-T
gnomAD v4:
3-48570294-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570294C>T , CM000665.2:g.48570294C>T | GRCh38 |
| NC_000003.11:g.48607727C>T , CM000665.1:g.48607727C>T | GRCh37 |
| NC_000003.10:g.48582731C>T | NCBI36 |
| NG_007065.1:g.29959G>A , LRG_286:g.29959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7421G>A MANE Select | ENSP00000506558.1:p.Arg2474His | |
| ENST00000328333.12:c.7421G>A | ENSP00000332371.8:p.Arg2474His | |
| ENST00000422991.1:c.416G>A | ENSP00000391608.1:p.Arg139His | |
| ENST00000459756.5:n.148G>A | ||
| ENST00000467985.1:n.171G>A | ||
| ENST00000487017.5:n.4060G>A | ||
| NM_000094.3:c.7421G>A , LRG_286t1:c.7421G>A | NP_000085.1:p.Arg2474His | |
| XM_011533336.1:c.7448G>A | XP_011531638.1:p.Arg2483His | |
| XM_011533337.1:c.7421G>A | XP_011531639.1:p.Arg2474His | |
| XM_011533338.1:c.7408-116G>A | XP_011531640.1:n.7408-116G>A | |
| XM_011533339.1:c.7448G>A | XP_011531641.1:p.Arg2483His | |
| XM_011533340.1:c.7408-42G>A | XP_011531642.1:n.7408-42G>A | |
| XM_011533341.1:c.7382-42G>A | XP_011531643.1:n.7382-42G>A | |
| XM_011533342.1:c.7382-116G>A | XP_011531644.1:n.7382-116G>A | |
| XR_940369.1:n.7484G>A | ||
| XR_940370.1:n.7484G>A | ||
| XR_940371.1:n.7484G>A | ||
| XR_940372.1:n.7458G>A | ||
| XM_017005688.1:c.7381-116G>A | XP_016861177.1:n.7381-116G>A | |
| XM_017005689.1:c.7421G>A | XP_016861178.1:p.Arg2474His | |
| XM_017005690.1:c.7381-42G>A | XP_016861179.1:n.7381-42G>A | |
| XM_017005691.1:c.7355-42G>A | XP_016861180.1:n.7355-42G>A | |
| XM_017005692.1:c.7355-116G>A | XP_016861181.1:n.7355-116G>A | |
| XR_001740003.1:n.7457G>A | ||
| XR_001740004.1:n.7457G>A | ||
| XR_001740005.1:n.7457G>A | ||
| XR_001740006.1:n.7431G>A | ||
| NM_000094.4:c.7421G>A MANE Select | NP_000085.1:p.Arg2474His |