Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173267G= , CM000678.2:g.173267G= | GRCh38 |
| NC_000016.9:g.223266G= , CM000678.1:g.223266G= | GRCh37 |
| NC_000016.8:g.163266G= | NCBI36 |
| NG_000006.1:g.34130G= | |
| NG_059186.1:g.1617G= | |
| NG_059271.1:g.5421G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.238G= MANE Select | ENSP00000251595.6:p.Ala80= | |
| ENST00000251595.10:c.238G= | ENSP00000251595.6:p.Ala80= | |
| ENST00000397806.1:c.142G= | ENSP00000380908.1:p.Ala48= | |
| ENST00000482565.1:n.374G= | ||
| ENST00000484216.1:n.207G= | ||
| NM_000517.4:c.238G= | NP_000508.1:p.Ala80= | |
| NM_000517.6:c.238G= MANE Select | NP_000508.1:p.Ala80= |