Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48124702A= , CM000677.2:g.48124702A= | GRCh38 |
| NC_000015.9:g.48416899A= , CM000677.1:g.48416899A= | GRCh37 |
| NC_000015.8:g.46204191A= | NCBI36 |
| NG_011500.1:g.8731A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_205850.3:c.301+2666A= MANE Select | NP_995322.1:n.301+2666A= |
| ENST00000341459.8:c.301+2666A= MANE Select | ENSP00000341550.3:n.301+2666A= |
| NM_205850.2:c.301+2666A= | NP_995322.1:n.301+2666A= |
| ENST00000341459.7:c.301+2666A= | ENSP00000341550.3:n.301+2666A= |
| ENST00000449382.2:c.121+3537A= | ENSP00000389966.2:n.121+3537A= |
| ENST00000463289.1:n.61+2666A= | |
| XM_011521458.1:c.301+2666A= | XP_011519760.1:n.301+2666A= |