Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177110C= , CM000678.2:g.177110C= | GRCh38 |
| NC_000016.9:g.227109C= , CM000678.1:g.227109C= | GRCh37 |
| NC_000016.8:g.167109C= | NCBI36 |
| NG_000006.1:g.37973C= | |
| NG_059186.1:g.5460C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.277C= MANE Select | ENSP00000322421.5:p.Arg93= | |
| ENST00000397797.1:c.181C= | ENSP00000380899.1:p.Arg61= | |
| ENST00000472694.1:n.413C= | ||
| ENST00000487791.1:n.246C= | ||
| NM_000558.4:c.277C= | NP_000549.1:p.Arg93= | |
| NM_000558.5:c.277C= MANE Select | NP_000549.1:p.Arg93= |