Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242257T= , CM000677.2:g.50242257T= | GRCh38 |
| NC_000015.9:g.50534454T= , CM000677.1:g.50534454T= | GRCh37 |
| NC_000015.8:g.48321746T= | NCBI36 |
| NG_027487.1:g.28709A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.*3A= MANE Select | ENSP00000267845.3:n.*3A= | |
| ENST00000267845.7:c.*3A= | ENSP00000267845.3:n.*3A= | |
| ENST00000543581.5:c.*3A= | ENSP00000440252.1:n.*3A= | |
| ENST00000559816.1:n.1736A= | ||
| NM_001306146.1:c.*3A= | NP_001293075.1:n.*3A= | |
| NM_002112.3:c.*3A= | NP_002103.2:n.*3A= | |
| XM_011521479.1:c.*3A= | XP_011519781.1:n.*3A= | |
| XM_011521480.1:c.*3A= | XP_011519782.1:n.*3A= | |
| XM_017022094.1:c.*3A= | XP_016877583.1:n.*3A= | |
| XM_017022095.1:c.*3A= | XP_016877584.1:n.*3A= | |
| XM_017022096.1:c.*3A= | XP_016877585.1:n.*3A= | |
| XM_017022097.1:c.*3A= | XP_016877586.1:n.*3A= | |
| XM_017022098.1:c.*3A= | XP_016877587.1:n.*3A= | |
| NM_002112.4:c.*3A= MANE Select | NP_002103.2:n.*3A= | |
| NM_001306146.2:c.*3A= | NP_001293075.1:n.*3A= |