Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173480C>A , CM000678.2:g.173480C>A | GRCh38 |
| NC_000016.9:g.223479C>A , CM000678.1:g.223479C>A | GRCh37 |
| NC_000016.8:g.163479C>A | NCBI36 |
| NG_000006.1:g.34343C>A | |
| NG_059186.1:g.1830C>A | |
| NG_059271.1:g.5634C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.309C>A MANE Select | ENSP00000251595.6:p.Ser103Arg | |
| ENST00000251595.10:c.309C>A | ENSP00000251595.6:p.Ser103Arg | |
| ENST00000397806.1:c.213C>A | ENSP00000380908.1:p.Ser71Arg | |
| ENST00000482565.1:n.445C>A | ||
| NM_000517.4:c.309C>A | NP_000508.1:p.Ser103Arg | |
| NM_000517.6:c.309C>A MANE Select | NP_000508.1:p.Ser103Arg |