Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854732T>C , CM000665.2:g.13854732T>C | GRCh38 |
| NC_000003.11:g.13896229T>C , CM000665.1:g.13896229T>C | GRCh37 |
| NC_000003.10:g.13871230T>C | NCBI36 |
| NG_008088.1:g.30390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.370A>G MANE Select | ENSP00000285018.4:p.Thr124Ala | |
| ENST00000285018.4:c.370A>G | ENSP00000285018.4:p.Thr124Ala | |
| NM_004625.3:c.370A>G | NP_004616.2:p.Thr124Ala | |
| XM_011534090.1:c.169A>G | XP_011532392.1:p.Thr57Ala | |
| XM_011534091.1:c.169A>G | XP_011532393.1:p.Thr57Ala | |
| XM_011534091.2:c.169A>G | XP_011532393.1:p.Thr57Ala | |
| NM_004625.4:c.370A>G MANE Select | NP_004616.2:p.Thr124Ala |