Linked Data
dbSNP Id:
rs1438920821
gnomAD v2:
12-54687009-G-A
gnomAD v3:
12-54293225-G-A
gnomAD v4:
12-54293225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54293225G>A , CM000674.2:g.54293225G>A | GRCh38 |
| NC_000012.11:g.54687009G>A , CM000674.1:g.54687009G>A | GRCh37 |
| NC_000012.10:g.52973276G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435572.7:c.271C>T MANE Select | ENSP00000397185.2:p.His91Tyr | |
| ENST00000312156.8:c.271C>T | ENSP00000312436.4:p.His91Tyr | |
| ENST00000435572.6:c.271C>T | ENSP00000397185.2:p.His91Tyr | |
| ENST00000540264.2:c.271C>T | ENSP00000439120.2:p.His91Tyr | |
| ENST00000553070.5:c.271C>T | ENSP00000447558.1:p.His91Tyr | |
| ENST00000553198.1:c.271C>T | ENSP00000446929.1:p.His91Tyr | |
| NM_001136023.2:c.271C>T | NP_001129495.1:p.His91Tyr | |
| NM_001261461.1:c.271C>T | NP_001248390.1:p.His91Tyr | |
| NM_006163.2:c.271C>T | NP_006154.1:p.His91Tyr | |
| XM_005268906.3:c.271C>T | XP_005268963.1:p.His91Tyr | |
| XM_011538397.1:c.238C>T | XP_011536699.1:p.His80Tyr | |
| XM_005268906.4:c.271C>T | XP_005268963.1:p.His91Tyr | |
| NM_001136023.3:c.271C>T MANE Select | NP_001129495.1:p.His91Tyr | |
| NM_001261461.2:c.271C>T | NP_001248390.1:p.His91Tyr | |
| NM_006163.3:c.271C>T | NP_006154.1:p.His91Tyr | |
| NM_001400365.1:c.271C>T | NP_001387294.1:p.His91Tyr | |
| NM_001400372.1:c.-33C>T | NP_001387301.1:n.-33C>T | |
| NM_001400373.1:c.-33C>T | NP_001387302.1:n.-33C>T |