Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172978T>C , CM000678.2:g.172978T>C | GRCh38 |
| NC_000016.9:g.222977T>C , CM000678.1:g.222977T>C | GRCh37 |
| NC_000016.8:g.162977T>C | NCBI36 |
| NG_000006.1:g.33841T>C | |
| NG_059186.1:g.1328T>C | |
| NG_059271.1:g.5132T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.66T>C MANE Select | ENSP00000251595.6:p.Ala22= | |
| ENST00000251595.10:c.66T>C | ENSP00000251595.6:p.Ala22= | |
| ENST00000397806.1:c.-2+20T>C | ENSP00000380908.1:n.-2+20T>C | |
| ENST00000482565.1:n.85T>C | ||
| ENST00000484216.1:n.35T>C | ||
| NM_000517.4:c.66T>C | NP_000508.1:p.Ala22= | |
| NM_000517.6:c.66T>C MANE Select | NP_000508.1:p.Ala22= |