Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125724C= , CM000668.2:g.31125724C= | GRCh38 |
| NC_000006.11:g.31093501C= , CM000668.1:g.31093501C= | GRCh37 |
| NC_000006.10:g.31201480C= | NCBI36 |
| NG_021348.1:g.15894C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-180C= MANE Select | ENSP00000259881.9:n.-180C= | |
| ENST00000259881.9:c.-180C= | ENSP00000259881.9:n.-180C= | |
| ENST00000479581.5:n.61+10833C= | ||
| ENST00000548049.1:n.165C= | ||
| ENST00000550838.1:n.59-15C= | ||
| ENST00000552747.1:n.53+10833C= | ||
| NM_014068.2:c.-180C= | NP_054787.2:n.-180C= | |
| NM_014068.3:c.-180C= MANE Select | NP_054787.2:n.-180C= |