Linked Data
ClinVar Variation Id:
7816
dbSNP Id:
rs121909222
PubMed:
PMID:9259288
ERepo:
CA000418/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933127A>G , CM000672.2:g.87933127A>G | GRCh38 |
| NC_000010.10:g.89692884A>G , CM000672.1:g.89692884A>G | GRCh37 |
| NC_000010.9:g.89682864A>G | NCBI36 |
| NG_007466.2:g.74689A>G , LRG_311:g.74689A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.368A>G | ENSP00000514759.2:p.His123Arg | |
| ENST00000710265.1:c.368A>G | ENSP00000518161.1:p.His123Arg | |
| ENST00000472832.3:c.368A>G | ENSP00000483066.2:p.His123Arg | |
| ENST00000688158.2:n.1103A>G | ||
| ENST00000688922.2:c.*198A>G | ENSP00000508742.2:n.*198A>G | |
| ENST00000700021.1:c.323A>G | ENSP00000514757.1:p.His108Arg | |
| ENST00000700022.1:c.368A>G | ENSP00000514758.1:p.His123Arg | |
| ENST00000700029.1:c.202A>G | ||
| ENST00000706954.1:c.368A>G | ENSP00000516674.1:p.His123Arg | |
| ENST00000706955.1:c.*403A>G | ENSP00000516675.1:n.*403A>G | |
| ENST00000686459.1:c.368A>G | ENSP00000508909.1:p.His123Arg | |
| ENST00000688158.1:c.*479A>G | ENSP00000509254.1:n.*479A>G | |
| ENST00000688308.1:c.368A>G | ENSP00000508752.1:p.His123Arg | |
| ENST00000688922.1:c.289A>G | ||
| ENST00000693560.1:c.887A>G | ENSP00000509861.1:p.His296Arg | |
| ENST00000371953.8:c.368A>G MANE Select | ENSP00000361021.3:p.His123Arg | |
| ENST00000371953.7:c.368A>G | ENSP00000361021.3:p.His123Arg | |
| ENST00000498703.1:n.194A>G | ||
| ENST00000610634.1:c.266A>G | ENSP00000477517.1:p.His89Arg | |
| NM_000314.5:c.368A>G | NP_000305.3:p.His123Arg | |
| NM_000314.6:c.368A>G | NP_000305.3:p.His123Arg | |
| NM_001304717.2:c.887A>G | NP_001291646.2:p.His296Arg | |
| NM_001304718.1:c.-383A>G | NP_001291647.1:n.-383A>G | |
| XM_006717926.2:c.323A>G | XP_006717989.1:p.His108Arg | |
| XM_011539981.1:c.368A>G | XP_011538283.1:p.His123Arg | |
| XM_011539982.1:c.272A>G | XP_011538284.1:p.His91Arg | |
| XR_945789.1:n.1080A>G | ||
| XR_945790.1:n.1080A>G | ||
| XR_945791.1:n.1080A>G | ||
| NM_000314.7:c.368A>G | NP_000305.3:p.His123Arg | |
| NM_001304717.5:c.887A>G | NP_001291646.4:p.His296Arg | |
| NM_001304718.2:c.-383A>G | NP_001291647.1:n.-383A>G | |
| NM_000314.8:c.368A>G MANE Select | NP_000305.3:p.His123Arg |