Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720484A= , CM000677.2:g.74720484A= | GRCh38 |
| NC_000015.9:g.75012825A= , CM000677.1:g.75012825A= | GRCh37 |
| NC_000015.8:g.72799878A= | NCBI36 |
| NG_008431.1:g.2943A= | |
| NG_008431.2:g.2943A= | |
| NG_061374.1:g.10045T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.*5T= MANE Select | ENSP00000369050.3:n.*5T= | |
| ENST00000379727.7:c.*5T= | ENSP00000369050.3:n.*5T= | |
| ENST00000395048.6:c.*5T= | ENSP00000378488.2:n.*5T= | |
| ENST00000395049.8:c.*5T= | ENSP00000378489.4:n.*5T= | |
| ENST00000567032.5:c.*5T= | ENSP00000456585.1:n.*5T= | |
| ENST00000612821.4:c.1460T= | ENSP00000479744.1:n.1460T= | |
| ENST00000617691.4:c.*5T= | ENSP00000482863.1:n.*5T= | |
| NM_000499.3:c.*5T= | NP_000490.1:n.*5T= | |
| XM_005254185.1:c.*5T= | XP_005254242.1:n.*5T= | |
| NM_000499.5:c.*5T= | NP_000490.1:n.*5T= | |
| NM_001319216.2:c.*5T= | NP_001306145.1:n.*5T= | |
| NM_001319217.2:c.*5T= MANE Select | NP_001306146.1:n.*5T= |