Linked Data
dbSNP Id:
rs1392318274
gnomAD v2:
12-7083597-C-T
gnomAD v3:
12-6974435-C-T
gnomAD v4:
12-6974435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974435C>T , CM000674.2:g.6974435C>T | GRCh38 |
| NC_000012.11:g.7083597C>T , CM000674.1:g.7083597C>T | GRCh37 |
| NC_000012.10:g.6953858C>T | NCBI36 |
| NG_021408.1:g.8655C>T | |
| NG_021408.2:g.8655C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599672.6:c.265C>T MANE Select | ENSP00000470560.1:p.His89Tyr | |
| ENST00000261406.7:c.247C>T | ENSP00000476966.2:p.His83Tyr | |
| ENST00000539196.2:c.128C>T | ||
| ENST00000599672.5:c.265C>T | ENSP00000470560.1:p.His89Tyr | |
| ENST00000607161.5:c.268C>T | ENSP00000480420.1:p.His90Tyr | |
| ENST00000611981.1:n.276C>T | ||
| ENST00000620255.1:n.254C>T | ||
| NM_006331.7:c.265C>T | NP_006322.4:p.His89Tyr | |
| XM_011520907.1:c.265C>T | XP_011519209.1:p.His89Tyr | |
| NM_001320049.1:c.265C>T | NP_001306978.1:p.His89Tyr | |
| NR_135131.1:n.408C>T | ||
| NM_006331.8:c.265C>T MANE Select | NP_006322.4:p.His89Tyr | |
| NM_001320049.2:c.265C>T | NP_001306978.1:p.His89Tyr | |
| NR_135131.2:n.276C>T |