Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177072C= , CM000678.2:g.177072C= | GRCh38 |
| NC_000016.9:g.227071C= , CM000678.1:g.227071C= | GRCh37 |
| NC_000016.8:g.167071C= | NCBI36 |
| NG_000006.1:g.37935C= | |
| NG_059186.1:g.5422C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.239C= MANE Select | ENSP00000322421.5:p.Ala80= | |
| ENST00000397797.1:c.143C= | ENSP00000380899.1:p.Ala48= | |
| ENST00000472694.1:n.375C= | ||
| ENST00000487791.1:n.208C= | ||
| NM_000558.4:c.239C= | NP_000549.1:p.Ala80= | |
| NM_000558.5:c.239C= MANE Select | NP_000549.1:p.Ala80= |