Linked Data
ClinVar Variation Id:
257594
dbSNP Id:
rs111371929
ExAC:
11:61165769 A / G
gnomAD v2:
11-61165769-A-G
gnomAD v3:
11-61398297-A-G
gnomAD v4:
11-61398297-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61398297A>G , CM000673.2:g.61398297A>G | GRCh38 |
| NC_000011.9:g.61165769A>G , CM000673.1:g.61165769A>G | GRCh37 |
| NC_000011.8:g.60922345A>G | NCBI36 |
| NG_032976.1:g.10939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.*21A>G | ENSP00000334844.5:n.*21A>G | |
| ENST00000544795.6:n.782A>G | ||
| ENST00000684926.1:n.521A>G | ||
| ENST00000688959.1:c.*21A>G | ENSP00000509213.1:n.*21A>G | |
| ENST00000690736.1:c.*184A>G | ENSP00000508542.1:n.*184A>G | |
| ENST00000515837.7:c.*21A>G MANE Select | ENSP00000440638.1:n.*21A>G | |
| ENST00000334888.9:c.*21A>G | ENSP00000334844.5:n.*21A>G | |
| ENST00000398979.7:c.*21A>G | ENSP00000381950.3:n.*21A>G | |
| ENST00000515837.6:c.*21A>G | ENSP00000440638.1:n.*21A>G | |
| NM_001173990.2:c.*21A>G | NP_001167461.1:n.*21A>G | |
| NM_001173991.2:c.*21A>G | NP_001167462.1:n.*21A>G | |
| NM_016499.5:c.*21A>G | NP_057583.2:n.*21A>G | |
| XM_005274039.3:c.*21A>G | XP_005274096.1:n.*21A>G | |
| NM_001330285.1:c.*21A>G | NP_001317214.1:n.*21A>G | |
| XM_005274039.4:c.*21A>G | XP_005274096.1:n.*21A>G | |
| NM_001173990.3:c.*21A>G MANE Select | NP_001167461.1:n.*21A>G | |
| NM_001173991.3:c.*21A>G | NP_001167462.1:n.*21A>G | |
| NM_001330285.2:c.*21A>G | NP_001317214.1:n.*21A>G | |
| NM_016499.6:c.*21A>G | NP_057583.2:n.*21A>G |