Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172976G>T , CM000678.2:g.172976G>T | GRCh38 |
| NC_000016.9:g.222975G>T , CM000678.1:g.222975G>T | GRCh37 |
| NC_000016.8:g.162975G>T | NCBI36 |
| NG_000006.1:g.33839G>T | |
| NG_059186.1:g.1326G>T | |
| NG_059271.1:g.5130G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.64G>T MANE Select | NP_000508.1:p.Ala22Ser |
| ENST00000251595.11:c.64G>T MANE Select | ENSP00000251595.6:p.Ala22Ser |
| NM_000517.4:c.64G>T | NP_000508.1:p.Ala22Ser |
| ENST00000251595.10:c.64G>T | ENSP00000251595.6:p.Ala22Ser |
| ENST00000397806.1:c.-2+18G>T | ENSP00000380908.1:n.-2+18G>T |
| ENST00000482565.1:n.83G>T | |
| ENST00000484216.1:n.33G>T |