Linked Data
ClinVar Variation Id:
330745
dbSNP Id:
rs3761702
ExAC:
2:112705143 A / G
gnomAD v2:
2-112705143-A-G
gnomAD v3:
2-111947566-A-G
gnomAD v4:
2-111947566-A-G
COSMIC:
COSM4001135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111947566A>G , CM000664.2:g.111947566A>G | GRCh38 |
| NC_000002.11:g.112705143A>G , CM000664.1:g.112705143A>G | GRCh37 |
| NC_000002.10:g.112421614A>G | NCBI36 |
| NG_011607.1:g.53953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.756A>G MANE Select | ENSP00000295408.4:p.Pro252= | |
| ENST00000295408.8:c.756A>G | ENSP00000295408.4:p.Pro252= | |
| ENST00000409780.5:c.228A>G | ENSP00000387277.1:p.Pro76= | |
| ENST00000421804.6:c.756A>G | ENSP00000389152.2:p.Pro252= | |
| ENST00000439966.5:c.*229A>G | ENSP00000402129.1:n.*229A>G | |
| ENST00000616902.4:c.-460A>G | ENSP00000482824.1:n.-460A>G | |
| NM_006343.2:c.756A>G | NP_006334.2:p.Pro252= | |
| XM_005263565.3:c.756A>G | XP_005263622.1:p.Pro252= | |
| XM_005263568.3:c.756A>G | XP_005263625.1:p.Pro252= | |
| XM_011510490.1:c.567A>G | XP_011508792.1:p.Pro189= | |
| XM_005263565.4:c.756A>G | XP_005263622.1:p.Pro252= | |
| XM_005263568.4:c.756A>G | XP_005263625.1:p.Pro252= | |
| XM_011510490.3:c.567A>G | XP_011508792.1:p.Pro189= | |
| XM_017003164.1:c.567A>G | XP_016858653.1:p.Pro189= | |
| XM_017003165.2:c.-512A>G | XP_016858654.1:n.-512A>G | |
| NM_006343.3:c.756A>G MANE Select | NP_006334.2:p.Pro252= |