Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242253C= , CM000677.2:g.50242253C= | GRCh38 |
| NC_000015.9:g.50534450C= , CM000677.1:g.50534450C= | GRCh37 |
| NC_000015.8:g.48321742C= | NCBI36 |
| NG_027487.1:g.28713G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.*7G= MANE Select | ENSP00000267845.3:n.*7G= | |
| ENST00000267845.7:c.*7G= | ENSP00000267845.3:n.*7G= | |
| ENST00000543581.5:c.*7G= | ENSP00000440252.1:n.*7G= | |
| ENST00000559816.1:n.1740G= | ||
| NM_001306146.1:c.*7G= | NP_001293075.1:n.*7G= | |
| NM_002112.3:c.*7G= | NP_002103.2:n.*7G= | |
| XM_011521479.1:c.*7G= | XP_011519781.1:n.*7G= | |
| XM_011521480.1:c.*7G= | XP_011519782.1:n.*7G= | |
| XM_017022094.1:c.*7G= | XP_016877583.1:n.*7G= | |
| XM_017022095.1:c.*7G= | XP_016877584.1:n.*7G= | |
| XM_017022096.1:c.*7G= | XP_016877585.1:n.*7G= | |
| XM_017022097.1:c.*7G= | XP_016877586.1:n.*7G= | |
| XM_017022098.1:c.*7G= | XP_016877587.1:n.*7G= | |
| NM_002112.4:c.*7G= MANE Select | NP_002103.2:n.*7G= | |
| NM_001306146.2:c.*7G= | NP_001293075.1:n.*7G= |