Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436712C>T , CM000678.2:g.67436712C>T | GRCh38 |
| NC_000016.9:g.67470615C>T , CM000678.1:g.67470615C>T | GRCh37 |
| NC_000016.8:g.66028116C>T | NCBI36 |
| NG_011482.1:g.49475G>A | |
| NG_016549.1:g.10580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.927C>T MANE Select | ENSP00000316786.5:p.His309= | |
| ENST00000326152.5:c.927C>T | ENSP00000316786.5:p.His309= | |
| NM_000196.3:c.927C>T | NP_000187.3:p.His309= | |
| NM_000196.4:c.927C>T MANE Select | NP_000187.3:p.His309= |