Linked Data
ClinVar Variation Id:
1584062
ClinVar RCV Id:
RCV002100207
dbSNP Id:
rs138510915
ExAC:
11:36597728 A / G
gnomAD v2:
11-36597728-A-G
gnomAD v3:
11-36576178-A-G
gnomAD v4:
11-36576178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36576178A>G , CM000673.2:g.36576178A>G | GRCh38 |
| NC_000011.9:g.36597728A>G , CM000673.1:g.36597728A>G | GRCh37 |
| NC_000011.8:g.36554304A>G | NCBI36 |
| NG_007528.1:g.13166A>G , LRG_98:g.13166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.2874A>G (RAG1) | ENSP00000513411.1:p.Ala958= | |
| ENST00000697714.1:c.2874A>G (RAG1) | ENSP00000513412.1:p.Ala958= | |
| ENST00000697715.1:c.2874A>G (RAG1) | ENSP00000513413.1:p.Ala958= | |
| ENST00000299440.6:c.2874A>G (RAG1) MANE Select | ENSP00000299440.5:p.Ala958= | |
| ENST00000299440.5:c.2874A>G (RAG1) | ENSP00000299440.5:p.Ala958= | |
| ENST00000524423.1:n.132-207T>C (RAG2) | ||
| ENST00000534663.1:c.2789+85A>G (RAG1) | ENSP00000434610.1:n.2789+85A>G | |
| NM_000448.2:c.2874A>G , LRG_98t1:c.2874A>G (RAG1) | NP_000439.1:p.Ala958= | |
| XM_005253041.3:c.2874A>G (RAG1) | XP_005253098.1:p.Ala958= | |
| XM_011520250.1:c.2874A>G (RAG1) | XP_011518552.1:p.Ala958= | |
| XM_011520251.1:c.2874A>G (RAG1) | XP_011518553.1:p.Ala958= | |
| XM_005253041.4:c.2874A>G (RAG1) | XP_005253098.1:p.Ala958= | |
| XM_011520250.2:c.2874A>G (RAG1) | XP_011518552.1:p.Ala958= | |
| NM_000448.3:c.2874A>G (RAG1) MANE Select | NP_000439.2:p.Ala958= | |
| NM_001377277.1:c.2874A>G (RAG1) | NP_001364206.1:p.Ala958= | |
| NM_001377278.1:c.2874A>G (RAG1) | NP_001364207.1:p.Ala958= | |
| NM_001377279.1:c.2874A>G (RAG1) | NP_001364208.1:p.Ala958= | |
| NM_001377280.1:c.2874A>G (RAG1) | NP_001364209.1:p.Ala958= |