Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188823T= , CM000675.2:g.20188823T= | GRCh38 |
| NC_000013.10:g.20762962T= , CM000675.1:g.20762962T= | GRCh37 |
| NC_000013.9:g.19660962T= | NCBI36 |
| NG_008358.1:g.9153A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.*78A= | ENSP00000372295.1:n.*78A= | |
| ENST00000382848.5:c.*78A= MANE Select | ENSP00000372299.4:n.*78A= | |
| ENST00000382844.1:c.*78A= | ENSP00000372295.1:n.*78A= | |
| ENST00000382848.4:c.*78A= | ENSP00000372299.4:n.*78A= | |
| NM_004004.5:c.*78A= | NP_003995.2:n.*78A= | |
| XM_011535049.1:c.*78A= | XP_011533351.1:n.*78A= | |
| XM_011535049.2:c.*78A= | XP_011533351.1:n.*78A= | |
| NM_004004.6:c.*78A= MANE Select | NP_003995.2:n.*78A= |