Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53134058T= , CM000668.2:g.53134058T= | GRCh38 |
| NC_000006.11:g.52998856T= , CM000668.1:g.52998856T= | GRCh37 |
| NC_000006.10:g.53106815T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003643.4:c.328+14A= MANE Select | NP_003634.2:n.328+14A= |
| ENST00000259803.8:c.328+14A= MANE Select | ENSP00000259803.7:n.328+14A= |
| NM_003643.3:c.328+14A= | NP_003634.2:n.328+14A= |
| ENST00000259803.7:c.328+14A= | ENSP00000259803.7:n.328+14A= |
| XM_017011390.2:c.514+14A= | XP_016866879.1:n.514+14A= |