Linked Data
ClinVar Variation Id:
137449
dbSNP Id:
rs151231277
ExAC:
15:45660274 A / G
gnomAD v2:
15-45660274-A-G
gnomAD v3:
15-45368076-A-G
gnomAD v4:
15-45368076-A-G
ERepo:
CA291037/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45368076A>G , CM000677.2:g.45368076A>G | GRCh38 |
| NC_000015.9:g.45660274A>G , CM000677.1:g.45660274A>G | GRCh37 |
| NC_000015.8:g.43447566A>G | NCBI36 |
| NG_011674.1:g.15707T>C | |
| NG_011674.2:g.39242T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.669T>C MANE Select | ENSP00000379895.3:p.Tyr223= | |
| ENST00000674905.1:c.669T>C | ENSP00000502176.1:p.Tyr223= | |
| ENST00000675158.1:c.669T>C | ENSP00000501737.1:p.Tyr223= | |
| ENST00000675323.1:c.669T>C | ENSP00000502445.1:p.Tyr223= | |
| ENST00000675701.1:c.609T>C | ENSP00000502671.1:p.Tyr203= | |
| ENST00000675974.1:n.760T>C | ||
| ENST00000676090.1:c.*1400T>C | ENSP00000501630.1:n.*1400T>C | |
| ENST00000396659.7:c.669T>C | ENSP00000379895.3:p.Tyr223= | |
| ENST00000558163.1:c.450T>C | ENSP00000453781.1:p.Tyr150= | |
| ENST00000558336.5:c.669T>C | ENSP00000454008.1:p.Tyr223= | |
| ENST00000558362.5:n.2325T>C | ||
| ENST00000558916.1:n.567T>C | ||
| NM_001482.2:c.669T>C | NP_001473.1:p.Tyr223= | |
| XM_011521450.1:c.717T>C | XP_011519752.1:p.Tyr239= | |
| XM_011521451.1:c.711T>C | XP_011519753.1:p.Tyr237= | |
| NM_001321015.1:c.282T>C | NP_001307944.1:p.Tyr94= | |
| NM_001482.3:c.669T>C MANE Select | NP_001473.1:p.Tyr223= | |
| NM_001321015.2:c.282T>C | NP_001307944.1:p.Tyr94= |