Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173177A>C , CM000678.2:g.173177A>C | GRCh38 |
| NC_000016.9:g.223176A>C , CM000678.1:g.223176A>C | GRCh37 |
| NC_000016.8:g.163176A>C | NCBI36 |
| NG_000006.1:g.34040A>C | |
| NG_059186.1:g.1527A>C | |
| NG_059271.1:g.5331A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.148A>C MANE Select | ENSP00000251595.6:p.Ser50Arg | |
| ENST00000251595.10:c.148A>C | ENSP00000251595.6:p.Ser50Arg | |
| ENST00000397806.1:c.52A>C | ENSP00000380908.1:p.Ser18Arg | |
| ENST00000482565.1:n.284A>C | ||
| ENST00000484216.1:n.117A>C | ||
| NM_000517.4:c.148A>C | NP_000508.1:p.Ser50Arg | |
| NM_000517.6:c.148A>C MANE Select | NP_000508.1:p.Ser50Arg |