Linked Data
ClinVar Variation Id:
2705220
ClinVar RCV Id:
RCV003575308
COSMIC:
COSM1045856
MyVariant Identifiers:
chr3:g.48607591G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570158G>A , CM000665.2:g.48570158G>A | GRCh38 |
| NC_000003.11:g.48607591G>A , CM000665.1:g.48607591G>A | GRCh37 |
| NC_000003.10:g.48582595G>A | NCBI36 |
| NG_007065.1:g.30095C>T , LRG_286:g.30095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7461C>T MANE Select | ENSP00000506558.1:p.Gly2487= | |
| ENST00000328333.12:c.7461C>T | ENSP00000332371.8:p.Gly2487= | |
| ENST00000422991.1:c.456C>T | ENSP00000391608.1:p.Gly152= | |
| ENST00000459756.5:n.284C>T | ||
| ENST00000467985.1:n.307C>T | ||
| ENST00000487017.5:n.4100C>T | ||
| NM_000094.3:c.7461C>T , LRG_286t1:c.7461C>T | NP_000085.1:p.Gly2487= | |
| XM_011533336.1:c.7488C>T | XP_011531638.1:p.Gly2496= | |
| XM_011533337.1:c.7461C>T | XP_011531639.1:p.Gly2487= | |
| XM_011533338.1:c.7428C>T | XP_011531640.1:p.Gly2476= | |
| XM_011533339.1:c.7488C>T | XP_011531641.1:p.Gly2496= | |
| XM_011533342.1:c.*16C>T | XP_011531644.1:n.*16C>T | |
| XR_940369.1:n.7524C>T | ||
| XR_940370.1:n.7524C>T | ||
| XR_940371.1:n.7524C>T | ||
| XR_940372.1:n.7498C>T | ||
| XM_017005688.1:c.7401C>T | XP_016861177.1:p.Gly2467= | |
| XM_017005689.1:c.7461C>T | XP_016861178.1:p.Gly2487= | |
| XM_017005692.1:c.*16C>T | XP_016861181.1:n.*16C>T | |
| XR_001740003.1:n.7497C>T | ||
| XR_001740004.1:n.7497C>T | ||
| XR_001740005.1:n.7497C>T | ||
| XR_001740006.1:n.7471C>T | ||
| NM_000094.4:c.7461C>T MANE Select | NP_000085.1:p.Gly2487= |