Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854701T>G , CM000665.2:g.13854701T>G | GRCh38 |
| NC_000003.11:g.13896198T>G , CM000665.1:g.13896198T>G | GRCh37 |
| NC_000003.10:g.13871199T>G | NCBI36 |
| NG_008088.1:g.30421A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.401A>C MANE Select | ENSP00000285018.4:p.Asp134Ala | |
| ENST00000285018.4:c.401A>C | ENSP00000285018.4:p.Asp134Ala | |
| NM_004625.3:c.401A>C | NP_004616.2:p.Asp134Ala | |
| XM_011534090.1:c.200A>C | XP_011532392.1:p.Asp67Ala | |
| XM_011534091.1:c.200A>C | XP_011532393.1:p.Asp67Ala | |
| XM_011534091.2:c.200A>C | XP_011532393.1:p.Asp67Ala | |
| NM_004625.4:c.401A>C MANE Select | NP_004616.2:p.Asp134Ala |