Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99609514C= , CM000676.2:g.99609514C= | GRCh38 |
| NC_000014.8:g.100075851C= , CM000676.1:g.100075851C= | GRCh37 |
| NC_000014.7:g.99145604C= | NCBI36 |
| NG_051108.1:g.10039C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006720277.2:c.-199+4899C= | XP_006720340.1:n.-199+4899C= | |
| XM_011537236.1:c.-287+4899C= | XP_011535538.1:n.-287+4899C= | |
| NM_001329411.1:c.-287+4899C= | NP_001316340.1:n.-287+4899C= | |
| XM_006720277.3:c.-199+4899C= | XP_006720340.1:n.-199+4899C= | |
| XM_011537236.2:c.-287+4899C= | XP_011535538.1:n.-287+4899C= | |
| NM_001329411.2:c.-287+4899C= | NP_001316340.1:n.-287+4899C= |