Linked Data
ClinVar Variation Id:
1050623
dbSNP Id:
rs768809293
ExAC:
11:36597145 G / A
gnomAD v2:
11-36597145-G-A
gnomAD v3:
11-36575595-G-A
gnomAD v4:
11-36575595-G-A
COSMIC:
COSM926740
ERepo:
CA5950243/MONDO:0000572/123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36575595G>A , CM000673.2:g.36575595G>A | GRCh38 |
| NC_000011.9:g.36597145G>A , CM000673.1:g.36597145G>A | GRCh37 |
| NC_000011.8:g.36553721G>A | NCBI36 |
| NG_007528.1:g.12583G>A , LRG_98:g.12583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.2291G>A (RAG1) | ENSP00000513411.1:p.Arg764His | |
| ENST00000697714.1:c.2291G>A (RAG1) | ENSP00000513412.1:p.Arg764His | |
| ENST00000697715.1:c.2291G>A (RAG1) | ENSP00000513413.1:p.Arg764His | |
| ENST00000299440.6:c.2291G>A (RAG1) MANE Select | ENSP00000299440.5:p.Arg764His | |
| ENST00000299440.5:c.2291G>A (RAG1) | ENSP00000299440.5:p.Arg764His | |
| ENST00000524423.1:n.508C>T (RAG2) | ||
| ENST00000534663.1:c.2291G>A (RAG1) | ENSP00000434610.1:p.Arg764His | |
| NM_000448.2:c.2291G>A , LRG_98t1:c.2291G>A (RAG1) | NP_000439.1:p.Arg764His | |
| XM_005253041.3:c.2291G>A (RAG1) | XP_005253098.1:p.Arg764His | |
| XM_011520250.1:c.2291G>A (RAG1) | XP_011518552.1:p.Arg764His | |
| XM_011520251.1:c.2291G>A (RAG1) | XP_011518553.1:p.Arg764His | |
| XM_005253041.4:c.2291G>A (RAG1) | XP_005253098.1:p.Arg764His | |
| XM_011520250.2:c.2291G>A (RAG1) | XP_011518552.1:p.Arg764His | |
| NM_000448.3:c.2291G>A (RAG1) MANE Select | NP_000439.2:p.Arg764His | |
| NM_001377277.1:c.2291G>A (RAG1) | NP_001364206.1:p.Arg764His | |
| NM_001377278.1:c.2291G>A (RAG1) | NP_001364207.1:p.Arg764His | |
| NM_001377279.1:c.2291G>A (RAG1) | NP_001364208.1:p.Arg764His | |
| NM_001377280.1:c.2291G>A (RAG1) | NP_001364209.1:p.Arg764His |