Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014307G>T , CM000663.2:g.1014307G>T | GRCh38 |
| NC_000001.10:g.949687G>T , CM000663.1:g.949687G>T | GRCh37 |
| NC_000001.9:g.939550G>T | NCBI36 |
| NG_033033.1:g.5841G>T | |
| NG_033033.2:g.18170G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.303G>T | ENSP00000485643.1:p.Gln101His | |
| ENST00000649529.1:c.327G>T MANE Select | ENSP00000496832.1:p.Gln109His | |
| ENST00000379389.4:c.327G>T | ENSP00000368699.4:p.Gln109His | |
| ENST00000624652.1:c.303G>T | ENSP00000485313.1:p.Gln101His | |
| ENST00000624697.3:c.303G>T | ENSP00000485643.1:p.Gln101His | |
| NM_005101.3:c.327G>T | NP_005092.1:p.Gln109His | |
| NM_005101.4:c.327G>T MANE Select | NP_005092.1:p.Gln109His |