Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125882T= , CM000668.2:g.31125882T= | GRCh38 |
| NC_000006.11:g.31093659T= , CM000668.1:g.31093659T= | GRCh37 |
| NC_000006.10:g.31201638T= | NCBI36 |
| NG_021348.1:g.16052T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-65+43T= MANE Select | ENSP00000259881.9:n.-65+43T= | |
| ENST00000259881.9:c.-65+43T= | ENSP00000259881.9:n.-65+43T= | |
| ENST00000479581.5:n.61+10991T= | ||
| ENST00000548049.1:n.280+43T= | ||
| ENST00000550838.1:n.159+43T= | ||
| ENST00000552747.1:n.53+10991T= | ||
| NM_014068.2:c.-65+43T= | NP_054787.2:n.-65+43T= | |
| NM_014068.3:c.-65+43T= MANE Select | NP_054787.2:n.-65+43T= |