Linked Data
ClinVar Variation Id:
1522248
ClinVar RCV Id:
RCV002028077
dbSNP Id:
rs377118671
gnomAD v2:
11-36597698-A-T
gnomAD v4:
11-36576148-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36576148A>T , CM000673.2:g.36576148A>T | GRCh38 |
| NC_000011.9:g.36597698A>T , CM000673.1:g.36597698A>T | GRCh37 |
| NC_000011.8:g.36554274A>T | NCBI36 |
| NG_007528.1:g.13136A>T , LRG_98:g.13136A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.2844A>T (RAG1) | ENSP00000513411.1:p.Glu948Asp | |
| ENST00000697714.1:c.2844A>T (RAG1) | ENSP00000513412.1:p.Glu948Asp | |
| ENST00000697715.1:c.2844A>T (RAG1) | ENSP00000513413.1:p.Glu948Asp | |
| ENST00000299440.6:c.2844A>T (RAG1) MANE Select | ENSP00000299440.5:p.Glu948Asp | |
| ENST00000299440.5:c.2844A>T (RAG1) | ENSP00000299440.5:p.Glu948Asp | |
| ENST00000524423.1:n.132-177T>A (RAG2) | ||
| ENST00000534663.1:c.2789+55A>T (RAG1) | ENSP00000434610.1:n.2789+55A>T | |
| NM_000448.2:c.2844A>T , LRG_98t1:c.2844A>T (RAG1) | NP_000439.1:p.Glu948Asp | |
| XM_005253041.3:c.2844A>T (RAG1) | XP_005253098.1:p.Glu948Asp | |
| XM_011520250.1:c.2844A>T (RAG1) | XP_011518552.1:p.Glu948Asp | |
| XM_011520251.1:c.2844A>T (RAG1) | XP_011518553.1:p.Glu948Asp | |
| XM_005253041.4:c.2844A>T (RAG1) | XP_005253098.1:p.Glu948Asp | |
| XM_011520250.2:c.2844A>T (RAG1) | XP_011518552.1:p.Glu948Asp | |
| NM_000448.3:c.2844A>T (RAG1) MANE Select | NP_000439.2:p.Glu948Asp | |
| NM_001377277.1:c.2844A>T (RAG1) | NP_001364206.1:p.Glu948Asp | |
| NM_001377278.1:c.2844A>T (RAG1) | NP_001364207.1:p.Glu948Asp | |
| NM_001377279.1:c.2844A>T (RAG1) | NP_001364208.1:p.Glu948Asp | |
| NM_001377280.1:c.2844A>T (RAG1) | NP_001364209.1:p.Glu948Asp |