Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67437067C= , CM000678.2:g.67437067C= | GRCh38 |
| NC_000016.9:g.67470970C= , CM000678.1:g.67470970C= | GRCh37 |
| NC_000016.8:g.66028471C= | NCBI36 |
| NG_011482.1:g.49120G= | |
| NG_016549.1:g.10935C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.*64C= MANE Select | ENSP00000316786.5:n.*64C= | |
| ENST00000326152.5:c.*64C= | ENSP00000316786.5:n.*64C= | |
| NM_000196.3:c.*64C= | NP_000187.3:n.*64C= | |
| NM_000196.4:c.*64C= MANE Select | NP_000187.3:n.*64C= |