Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909345G>T , CM000679.2:g.42909345G>T | GRCh38 |
| NC_000017.10:g.41061362G>T , CM000679.1:g.41061362G>T | GRCh37 |
| NC_000017.9:g.38314888G>T | NCBI36 |
| NG_011808.1:g.13548G>T , LRG_147:g.13548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.489G>T MANE Select | ENSP00000253801.1:p.Gln163His | |
| ENST00000253801.6:c.489G>T | ENSP00000253801.1:p.Gln163His | |
| ENST00000585489.1:c.447-1570G>T | ENSP00000466202.1:n.447-1570G>T | |
| ENST00000592383.5:c.412G>T | ENSP00000465958.1:p.Ala138Ser | |
| NM_000151.3:c.489G>T | NP_000142.2:p.Gln163His | |
| NM_001270397.1:c.412G>T | NP_001257326.1:p.Ala138Ser | |
| NM_000151.4:c.489G>T MANE Select | NP_000142.2:p.Gln163His | |
| NM_001270397.2:c.412G>T | NP_001257326.1:p.Ala138Ser |