Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173269G= , CM000678.2:g.173269G= | GRCh38 |
| NC_000016.9:g.223268G= , CM000678.1:g.223268G= | GRCh37 |
| NC_000016.8:g.163268G= | NCBI36 |
| NG_000006.1:g.34132G= | |
| NG_059186.1:g.1619G= | |
| NG_059271.1:g.5423G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.240G= MANE Select | ENSP00000251595.6:p.Ala80= | |
| ENST00000251595.10:c.240G= | ENSP00000251595.6:p.Ala80= | |
| ENST00000397806.1:c.144G= | ENSP00000380908.1:p.Ala48= | |
| ENST00000482565.1:n.376G= | ||
| ENST00000484216.1:n.209G= | ||
| NM_000517.4:c.240G= | NP_000508.1:p.Ala80= | |
| NM_000517.6:c.240G= MANE Select | NP_000508.1:p.Ala80= |