Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.133945710C= , CM000669.2:g.133945710C= | GRCh38 |
| NC_000007.13:g.133630463C= , CM000669.1:g.133630463C= | GRCh37 |
| NC_000007.12:g.133281003C= | NCBI36 |
| NG_047176.1:g.697644C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021807.4:c.2206+7641C= MANE Select | NP_068579.3:n.2206+7641C= |
| ENST00000253861.5:c.2206+7641C= MANE Select | ENSP00000253861.4:n.2206+7641C= |
| NM_021807.3:c.2206+7641C= | NP_068579.3:n.2206+7641C= |
| ENST00000253861.4:c.2206+7641C= | ENSP00000253861.4:n.2206+7641C= |
| ENST00000478265.1:n.452+7641C= | |
| XM_017012494.2:c.1036+7641C= | XP_016867983.1:n.1036+7641C= |
| XR_001744845.2:n.2233+7641C= |