Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125809C= , CM000668.2:g.31125809C= | GRCh38 |
| NC_000006.11:g.31093586C= , CM000668.1:g.31093586C= | GRCh37 |
| NC_000006.10:g.31201565C= | NCBI36 |
| NG_021348.1:g.15979C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-95C= MANE Select | ENSP00000259881.9:n.-95C= | |
| ENST00000259881.9:c.-95C= | ENSP00000259881.9:n.-95C= | |
| ENST00000479581.5:n.61+10918C= | ||
| ENST00000548049.1:n.250C= | ||
| ENST00000550838.1:n.129C= | ||
| ENST00000552747.1:n.53+10918C= | ||
| NM_014068.2:c.-95C= | NP_054787.2:n.-95C= | |
| NM_014068.3:c.-95C= MANE Select | NP_054787.2:n.-95C= |