Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837149C= , CM000685.2:g.46837149C= | GRCh38 |
| NC_000023.10:g.46696584C= , CM000685.1:g.46696584C= | GRCh37 |
| NC_000023.9:g.46581528C= | NCBI36 |
| NG_009107.1:g.5238C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.49C= MANE Select | ENSP00000218340.3:p.Pro17= | |
| ENST00000218340.3:c.49C= | ENSP00000218340.3:p.Pro17= | |
| NM_006915.2:c.49C= | NP_008846.2:p.Pro17= | |
| NM_006915.3:c.49C= MANE Select | NP_008846.2:p.Pro17= |