Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173571A>C , CM000678.2:g.173571A>C | GRCh38 |
| NC_000016.9:g.223570A>C , CM000678.1:g.223570A>C | GRCh37 |
| NC_000016.8:g.163570A>C | NCBI36 |
| NG_000006.1:g.34434A>C | |
| NG_059186.1:g.1921A>C | |
| NG_059271.1:g.5725A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.400A>C MANE Select | NP_000508.1:p.Ser134Arg |
| ENST00000251595.11:c.400A>C MANE Select | ENSP00000251595.6:p.Ser134Arg |
| NM_000517.4:c.400A>C | NP_000508.1:p.Ser134Arg |
| ENST00000251595.10:c.400A>C | ENSP00000251595.6:p.Ser134Arg |
| ENST00000397806.1:c.304A>C | ENSP00000380908.1:p.Ser102Arg |
| ENST00000482565.1:n.536A>C |