Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46002468C= , CM000672.2:g.46002468C= | GRCh38 |
| NC_000010.10:g.51593354G= , CM000672.1:g.51593354G= | GRCh37 |
| NC_000010.9:g.51263360G= | NCBI36 |
| NG_032850.1:g.35033C= | |
| NG_032850.2:g.35016C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006327.4:c.515-735C= MANE Select | NP_006318.1:n.515-735C= |
| ENST00000580018.4:c.515-735C= MANE Select | ENSP00000464522.3:n.515-735C= |
| NM_006327.3:c.515-735C= | NP_006318.1:n.515-735C= |
| NR_073029.1:n.794C= | |
| NR_073029.2:n.758C= | |
| NR_073030.1:n.628-735C= | |
| NR_073030.2:n.592-735C= | |
| ENST00000580018.3:c.515-735C= | ENSP00000464522.3:n.515-735C= |