Linked Data
ClinVar Variation Id:
127140
ClinVar RCV Id:
RCV000114995
dbSNP Id:
rs587777338
gnomAD v2:
4-123542021-A-G
gnomAD v3:
4-122620866-A-G
gnomAD v4:
4-122620866-A-G
PubMed:
PMID:24746753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122620866A>G , CM000666.2:g.122620866A>G | GRCh38 |
| NC_000004.11:g.123542021A>G , CM000666.1:g.123542021A>G | GRCh37 |
| NC_000004.10:g.123761471A>G | NCBI36 |
| NG_031966.1:g.5192T>C | |
| NG_031966.2:g.5201T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611104.2:c.146T>C (IL21) | ENSP00000477555.1:p.Leu49Pro | |
| ENST00000648588.1:c.146T>C (IL21) MANE Select | ENSP00000497915.1:p.Leu49Pro | |
| ENST00000264497.7:c.146T>C (IL21) | ENSP00000264497.3:p.Leu49Pro | |
| ENST00000611104.1:c.146T>C (IL21) | ENSP00000477555.1:p.Leu49Pro | |
| NM_001207006.2:c.146T>C (IL21) | NP_001193935.1:p.Leu49Pro | |
| NM_021803.3:c.146T>C (IL21) | NP_068575.1:p.Leu49Pro | |
| NR_104126.1:n.709-2A>G (IL21-AS1) | ||
| NM_021803.4:c.146T>C (IL21) MANE Select | NP_068575.1:p.Leu49Pro | |
| NM_001207006.3:c.146T>C (IL21) | NP_001193935.1:p.Leu49Pro |