Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48966011C= , CM000674.2:g.48966011C= | GRCh38 |
| NC_000012.11:g.49359794C= , CM000674.1:g.49359794C= | GRCh37 |
| NC_000012.10:g.47646061C= | NCBI36 |
| NG_023347.1:g.10848G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301061.9:c.*84G= MANE Select | ENSP00000301061.4:n.*84G= | |
| ENST00000301061.8:c.*84G= | ENSP00000301061.4:n.*84G= | |
| ENST00000403957.5:c.*536G= | ENSP00000385980.1:n.*536G= | |
| ENST00000407467.5:c.*536G= | ENSP00000384691.1:n.*536G= | |
| NM_003394.3:c.*84G= | NP_003385.2:n.*84G= | |
| XM_011538721.1:c.*84G= | XP_011537023.1:n.*84G= | |
| XM_011538722.1:c.*84G= | XP_011537024.1:n.*84G= | |
| XM_017019919.1:c.*84G= | XP_016875408.1:n.*84G= | |
| XM_024449179.1:c.*84G= | XP_024304947.1:n.*84G= | |
| NM_003394.4:c.*84G= MANE Select | NP_003385.2:n.*84G= |