Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784043C= , CM000663.2:g.40784043C= | GRCh38 |
| NC_000001.10:g.41249715C= , CM000663.1:g.41249715C= | GRCh37 |
| NC_000001.9:g.41022302C= | NCBI36 |
| NG_008139.1:g.5032C= | |
| NG_008139.2:g.5032C= | |
| NG_008139.3:g.5257C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-51C= MANE Select | ENSP00000262916.6:n.-51C= | |
| ENST00000347132.9:c.-51C= | ENSP00000262916.6:n.-51C= | |
| NM_004700.3:c.-51C= | NP_004691.2:n.-51C= | |
| NM_172163.2:c.-51C= | NP_751895.1:n.-51C= | |
| NM_004700.4:c.-51C= MANE Select | NP_004691.2:n.-51C= | |
| NM_172163.3:c.-51C= | NP_751895.1:n.-51C= |