Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85477269C>T , CM000670.2:g.85477269C>T | GRCh38 |
| NC_000008.10:g.86389498C>T , CM000670.1:g.86389498C>T | GRCh37 |
| NC_000008.9:g.86576750C>T | NCBI36 |
| NG_007287.1:g.18253C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.657C>T MANE Select | NP_000058.1:p.Ser219= |
| ENST00000285379.10:c.657C>T MANE Select | ENSP00000285379.4:p.Ser219= |
| NM_000067.2:c.657C>T | NP_000058.1:p.Ser219= |
| NM_001293675.1:c.354C>T | NP_001280604.1:p.Ser118= |
| NM_001293675.2:c.354C>T | NP_001280604.1:p.Ser118= |
| ENST00000285379.9:c.657C>T | ENSP00000285379.4:p.Ser219= |
| ENST00000520127.5:c.*244C>T | ENSP00000428443.1:n.*244C>T |