Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177001T>G , CM000678.2:g.177001T>G | GRCh38 |
| NC_000016.9:g.227000T>G , CM000678.1:g.227000T>G | GRCh37 |
| NC_000016.8:g.167000T>G | NCBI36 |
| NG_000006.1:g.37864T>G | |
| NG_059186.1:g.5351T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.168T>G MANE Select | ENSP00000322421.5:p.Val56= | |
| ENST00000397797.1:c.72T>G | ENSP00000380899.1:p.Val24= | |
| ENST00000472694.1:n.304T>G | ||
| ENST00000487791.1:n.137T>G | ||
| NM_000558.4:c.168T>G | NP_000549.1:p.Val56= | |
| NM_000558.5:c.168T>G MANE Select | NP_000549.1:p.Val56= |