Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46599326G= , CM000683.2:g.46599326G= | GRCh38 |
| NC_000021.8:g.48019239G= , CM000683.1:g.48019239G= | GRCh37 |
| NC_000021.7:g.46843667G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006272.3:c.*37C= MANE Select | NP_006263.1:n.*37C= |
| ENST00000291700.9:c.*37C= MANE Select | ENSP00000291700.4:n.*37C= |
| NM_006272.2:c.*37C= | NP_006263.1:n.*37C= |
| ENST00000291700.8:c.*37C= | ENSP00000291700.4:n.*37C= |
| ENST00000367071.4:c.*125C= | ENSP00000356038.4:n.*125C= |
| ENST00000397648.1:c.*37C= | ENSP00000380769.1:n.*37C= |
| XM_017028424.2:c.*37C= | XP_016883913.1:n.*37C= |