Linked Data
ClinVar Variation Id:
750870
dbSNP Id:
rs146250538
ExAC:
3:48607726 A / G
gnomAD v2:
3-48607726-A-G
gnomAD v3:
3-48570293-A-G
gnomAD v4:
3-48570293-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570293A>G , CM000665.2:g.48570293A>G | GRCh38 |
| NC_000003.11:g.48607726A>G , CM000665.1:g.48607726A>G | GRCh37 |
| NC_000003.10:g.48582730A>G | NCBI36 |
| NG_007065.1:g.29960T>C , LRG_286:g.29960T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7422T>C MANE Select | ENSP00000506558.1:p.Arg2474= | |
| ENST00000328333.12:c.7422T>C | ENSP00000332371.8:p.Arg2474= | |
| ENST00000422991.1:c.417T>C | ENSP00000391608.1:p.Arg139= | |
| ENST00000459756.5:n.149T>C | ||
| ENST00000467985.1:n.172T>C | ||
| ENST00000487017.5:n.4061T>C | ||
| NM_000094.3:c.7422T>C , LRG_286t1:c.7422T>C | NP_000085.1:p.Arg2474= | |
| XM_011533336.1:c.7449T>C | XP_011531638.1:p.Arg2483= | |
| XM_011533337.1:c.7422T>C | XP_011531639.1:p.Arg2474= | |
| XM_011533338.1:c.7408-115T>C | XP_011531640.1:n.7408-115T>C | |
| XM_011533339.1:c.7449T>C | XP_011531641.1:p.Arg2483= | |
| XM_011533340.1:c.7408-41T>C | XP_011531642.1:n.7408-41T>C | |
| XM_011533341.1:c.7382-41T>C | XP_011531643.1:n.7382-41T>C | |
| XM_011533342.1:c.7382-115T>C | XP_011531644.1:n.7382-115T>C | |
| XR_940369.1:n.7485T>C | ||
| XR_940370.1:n.7485T>C | ||
| XR_940371.1:n.7485T>C | ||
| XR_940372.1:n.7459T>C | ||
| XM_017005688.1:c.7381-115T>C | XP_016861177.1:n.7381-115T>C | |
| XM_017005689.1:c.7422T>C | XP_016861178.1:p.Arg2474= | |
| XM_017005690.1:c.7381-41T>C | XP_016861179.1:n.7381-41T>C | |
| XM_017005691.1:c.7355-41T>C | XP_016861180.1:n.7355-41T>C | |
| XM_017005692.1:c.7355-115T>C | XP_016861181.1:n.7355-115T>C | |
| XR_001740003.1:n.7458T>C | ||
| XR_001740004.1:n.7458T>C | ||
| XR_001740005.1:n.7458T>C | ||
| XR_001740006.1:n.7432T>C | ||
| NM_000094.4:c.7422T>C MANE Select | NP_000085.1:p.Arg2474= |